Publications:

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Potential Binding Sites of Pharmacological Chaperone NCGC00241607 on Mutant β-Glucocerebrosidase and Its Efficacy on Patient-Derived Cell Cultures in Gaucher and Parkinson's Disease.

International Journal Of Molecular Sciences

Kopytova, Alena E AE; Rychkov, George N GN; Cheblokov, Alexander A AA; Grigor'eva, Elena V EV; Nikolaev, Mikhail A MA; Yarkova, Elena S ES; Sorogina, Diana A DA; Ibatullin, Farid M FM; Baydakova, Galina V GV; Izyumchenko, Artem D AD; Bogdanova, Daria A DA; Boitsov, Vitali M VM; Rybakov, Akim V AV; Miliukhina, Irina V IV; Bezrukikh, Vadim A VA; Salogub, Galina N GN; Zakharova, Ekaterina Y EY; Pchelina, Sofya N SN; Emelyanov, Anton K AK

Publication Date: 2023-05-22

Variant appearance in text: PC: N370S

PubMed Link: 37240451

Variant Present in the following documents:

• Main text
• ijms-24-09105.pdf

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Targeting neuronal lysosomal dysfunction caused by β-glucocerebrosidase deficiency with an enzyme-based brain shuttle construct.

Nature Communications

Gehrlein, Alexandra A; Udayar, Vinod V; Anastasi, Nadia N; Morella, Martino L ML; Ruf, Iris I; Brugger, Doris D; von der Mark, Sophia S; Thoma, Ralf R; Rufer, Arne A; Heer, Dominik D; Pfahler, Nina N; Jochner, Anton A; Niewoehner, Jens J; Wolf, Luise L; Fueth, Matthias M; Ebeling, Martin M; Villaseñor, Roberto R; Zhu, Yanping Y; Deen, Matthew C MC; Shan, Xiaoyang X; Ehsaei, Zahra Z; Taylor, Verdon V; Sidransky, Ellen E; Vocadlo, David J DJ; Freskgård, Per-Ola PO; Jagasia, Ravi R

Publication Date: 2023-04-12

Variant appearance in text: PC: N370S

PubMed Link: 37045813

Variant Present in the following documents:

• Main text
• 41467_2023_37632_MOESM1_ESM.pdf
• 41467_2023_Article_37632.pdf

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Association of polygenic risk score with response to deep brain stimulation in Parkinson's disease.

Bmc Neurology

Yoon, Esther E; Ahmed, Sarah S; Li, Ryan R; Bandres-Ciga, Sara S; Blauwendraat, Cornelis C; Dustin, Irene I; Scholz, Sonja S; Hallett, Mark M; Ehrlich, Debra D

Publication Date: 2023-04-04

Variant appearance in text: PC: N370S

PubMed Link: 37016359

Variant Present in the following documents:

• Main text
• 12883_2023_Article_3188.pdf

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Pharmacological Chaperones and Protein Conformational Diseases: Approaches of Computational Structural Biology.

International Journal Of Molecular Sciences

Grasso, Daniela D; Galderisi, Silvia S; Santucci, Annalisa A; Bernini, Andrea A

Publication Date: 2023-03-18

Variant appearance in text: PC: Asn370Ser

PubMed Link: 36982893

Variant Present in the following documents:

• Main text
• ijms-24-05819.pdf

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Lipid profiles in the cerebrospinal fluid of rats with 6-hydroxydopamine-induced lesions as a model of Parkinson's disease.

Frontiers In Aging Neuroscience

Qiu, Jiewen J; Peng, Guoyou G; Tang, Yuting Y; Li, Shiyin S; Liu, Zengfu Z; Zheng, Jiayun J; Wang, Yunxin Y; Liu, Hanqun H; Wei, Lijian L; Su, Yilin Y; Lin, Yuwan Y; Dai, Wei W; Zhang, Zhiling Z; Chen, Xiang X; Ding, Liuyan L; Guo, Wenyuan W; Zhu, Xiaoqin X; Xu, Pingyi P; Mo, Mingshu M

Publication Date: 2022

Variant appearance in text: PC: N370S

PubMed Link: 36742201

Variant Present in the following documents:

• Main text
• fnagi-14-1077738.pdf

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Mitochondrial and Endoplasmic Reticulum Stress Trigger Triglyceride Accumulation in Models of Parkinson's Disease Independent of Mutations in MAPT.

Metabolites

Fernandes, Hugo J R HJR; Kent, Josh P JP; Bruntraeger, Michaela M; Bassett, Andrew R AR; Koulman, Albert A; Metzakopian, Emmanouil E; Snowden, Stuart G SG

Publication Date: 2023-01-09

Variant appearance in text: PC: N370S

PubMed Link: 36677037

Variant Present in the following documents:

• metabolites-13-00112.pdf

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Hemostatic Abnormalities in Gaucher Disease: Mechanisms and Clinical Implications.

Journal Of Clinical Medicine

Linari, Silvia S; Castaman, Giancarlo G

Publication Date: 2022-11-24

Variant appearance in text: PC: N370S

PubMed Link: 36498496

Variant Present in the following documents:

• jcm-11-06920.pdf

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Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.

Cell

Waldman, Shamam S; Backenroth, Daniel D; Harney, Éadaoin É; Flohr, Stefan S; Neff, Nadia C NC; Buckley, Gina M GM; Fridman, Hila H; Akbari, Ali A; Rohland, Nadin N; Mallick, Swapan S; Olalde, Iñigo I; Cooper, Leo L; Lomes, Ariel A; Lipson, Joshua J; Cano Nistal, Jorge J; Yu, Jin J; Barzilai, Nir N; Peter, Inga I; Atzmon, Gil G; Ostrer, Harry H; Lencz, Todd T; Maruvka, Yosef E YE; Lämmerhirt, Maike M; Beider, Alexander A; Rutgers, Leonard V LV; Renson, Virginie V; Prufer, Keith M KM; Schiffels, Stephan S; Ringbauer, Harald H; Sczech, Karin K; Carmi, Shai S; Reich, David D

Publication Date: 2022-11-22

Variant appearance in text: PC: N370S

PubMed Link: 36455558

Variant Present in the following documents:

• NIHMS1852590-supplement-MMC1.pdf

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LRRK2 and Lipid Pathways: Implications for Parkinson's Disease.

Biomolecules

Galper, Jasmin J; Kim, Woojin S WS; Dzamko, Nicolas N

Publication Date: 2022-10-30

Variant appearance in text: PC: N370S

PubMed Link: 36358947

Variant Present in the following documents:

• biomolecules-12-01597.pdf

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Single-cell and single-nuclei RNA sequencing as powerful tools to decipher cellular heterogeneity and dysregulation in neurodegenerative diseases.

Frontiers In Cell And Developmental Biology

Cuevas-Diaz Duran, Raquel R; González-Orozco, Juan Carlos JC; Velasco, Iván I; Wu, Jia Qian JQ

Publication Date: 2022

Variant appearance in text: PC: N370S

PubMed Link: 36353512

Variant Present in the following documents:

• Main text
• fcell-10-884748.pdf

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Transient inhibition of p53 enhances prime editing and cytosine base-editing efficiencies in human pluripotent stem cells.

Nature Communications

Li, Mu M; Zhong, Aaron A; Wu, Youjun Y; Sidharta, Mega M; Beaury, Michael M; Zhao, Xiaolan X; Studer, Lorenz L; Zhou, Ting T

Publication Date: 2022-10-27

Variant appearance in text: PC: N370S

PubMed Link: 36302757

Variant Present in the following documents:

• 41467_2022_34045_MOESM1_ESM.pdf

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GCase Enhancers: A Potential Therapeutic Option for Gaucher Disease and Other Neurological Disorders.

Pharmaceuticals (Basel, Switzerland)

Martínez-Bailén, Macarena M; Clemente, Francesca F; Matassini, Camilla C; Cardona, Francesca F

Publication Date: 2022-07-02

Variant appearance in text: PC: N370S

PubMed Link: 35890122

Variant Present in the following documents:

• Main text
• pharmaceuticals-15-00823.pdf

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Lipid pathway dysfunction is prevalent in patients with Parkinson's disease.

Brain : A Journal Of Neurology

Galper, Jasmin J; Dean, Nicholas J NJ; Pickford, Russell R; Lewis, Simon J G SJG; Halliday, Glenda M GM; Kim, Woojin S WS; Dzamko, Nicolas N

Publication Date: 2022-10-21

Variant appearance in text: PC: N370S

PubMed Link: 35551349

Variant Present in the following documents:

• awac176.pdf

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Effects of Alzheimer's genetic risk scores and CSF biomarkers in de novo Parkinson's Disease.

Npj Parkinson'S Disease

Lee, Young-Gun YG; Jeong, Seong Ho SH; Park, Mincheol M; Kang, Sung Woo SW; Baik, Kyoungwon K; Jeon, Seun S; Lee, Phil Hyu PH; Sohn, Young Ho YH; Ye, Byoung Seok BS

Publication Date: 2022-05-11

Variant appearance in text: PC: N370S

PubMed Link: 35545633

Variant Present in the following documents:

• Main text
• 41531_2022_Article_317.pdf

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Mechanistic Insight into the Mode of Action of Acid β-Glucosidase Enhancer Ambroxol.

International Journal Of Molecular Sciences

Pantoom, Supansa S; Hules, Larissa L; Schöll, Christopher C; Petrosyan, Andranik A; Monticelli, Maria M; Pospech, Jola J; Cubellis, Maria Vittoria MV; Hermann, Andreas A; Lukas, Jan J

Publication Date: 2022-03-24

Variant appearance in text: PC: Asn370Ser

PubMed Link: 35408914

Variant Present in the following documents:

• Main text
• ijms-23-03536.pdf

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Dynamic coupling of residues within proteins as a mechanistic foundation of many enigmatic pathogenic missense variants.

Plos Computational Biology

Ose, Nicholas J NJ; Butler, Brandon M BM; Kumar, Avishek A; Kazan, I Can IC; Sanderford, Maxwell M; Kumar, Sudhir S; Ozkan, S Banu SB

Publication Date: 2022-04

Variant appearance in text: PC: N370S

PubMed Link: 35389981

Variant Present in the following documents:

• pcbi.1010006.pdf

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Sphingolipid changes in Parkinson L444P GBA mutation fibroblasts promote α-synuclein aggregation.

Brain : A Journal Of Neurology

Galvagnion, Céline C; Marlet, Frederik Ravnkilde FR; Cerri, Silvia S; Schapira, Anthony H V AHV; Blandini, Fabio F; Di Monte, Donato A DA

Publication Date: 2022-04-29

Variant appearance in text: PC: N370S

PubMed Link: 35362022

Variant Present in the following documents:

• Main text
• awab371.pdf

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3,4,5-Trihydroxypiperidine Based Multivalent Glucocerebrosidase (GCase) Enhancers.

Chembiochem : A European Journal Of Chemical Biology

Vanni, Costanza C; Clemente, Francesca F; Paoli, Paolo P; Morrone, Amelia A; Matassini, Camilla C; Goti, Andrea A; Cardona, Francesca F

Publication Date: 2022-06-03

Variant appearance in text: PC: N370S

PubMed Link: 35322924

Variant Present in the following documents:

• CBIC-23-0.pdf

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Therapeutic Approaches in Lysosomal Storage Diseases.

Biomolecules

Fernández-Pereira, Carlos C; San Millán-Tejado, Beatriz B; Gallardo-Gómez, María M; Pérez-Márquez, Tania T; Alves-Villar, Marta M; Melcón-Crespo, Cristina C; Fernández-Martín, Julián J; Ortolano, Saida S

Publication Date: 2021-11-26

Variant appearance in text: PC: Asn370Ser

PubMed Link: 34944420

Variant Present in the following documents:

• Main text

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Therapeutic Approaches in Lysosomal Storage Diseases.

Biomolecules

Fernández-Pereira, Carlos C; San Millán-Tejado, Beatriz B; Gallardo-Gómez, María M; Pérez-Márquez, Tania T; Alves-Villar, Marta M; Melcón-Crespo, Cristina C; Fernández-Martín, Julián J; Ortolano, Saida S

Publication Date: 2021-11-26

Variant appearance in text: PC: Asn370Ser

PubMed Link: 34944420

Variant Present in the following documents:

• Main text

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Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.

Orphanet Journal Of Rare Diseases

Phetthong, Tim T; Tim-Aroon, Thipwimol T; Khongkraparn, Arthaporn A; Noojarern, Saisuda S; Kuptanon, Chulaluck C; Wichajarn, Khunton K; Sathienkijkanchai, Achara A; Suphapeetiporn, Kanya K; Charoenkwan, Pimlak P; Tantiworawit, Adisak A; Noentong, Naruwan N; Wattanasirichaigoon, Duangrurdee D

Publication Date: 2021-12-20

Variant appearance in text: PC: N370S

PubMed Link: 34930372

Variant Present in the following documents:

• Main text

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Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.

Orphanet Journal Of Rare Diseases

Phetthong, Tim T; Tim-Aroon, Thipwimol T; Khongkraparn, Arthaporn A; Noojarern, Saisuda S; Kuptanon, Chulaluck C; Wichajarn, Khunton K; Sathienkijkanchai, Achara A; Suphapeetiporn, Kanya K; Charoenkwan, Pimlak P; Tantiworawit, Adisak A; Noentong, Naruwan N; Wattanasirichaigoon, Duangrurdee D

Publication Date: 2021-12-20

Variant appearance in text: PC: N370S

PubMed Link: 34930372

Variant Present in the following documents:

• Main text

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Novel Management and Screening Approaches for Haematological Complications of Gaucher's Disease.

Journal Of Blood Medicine

Giraldo, Pilar P; Andrade-Campos, Marcio M

Publication Date: 2021

Variant appearance in text: PC: N370S

PubMed Link: 34908889

Variant Present in the following documents:

• jbm-12-1045.pdf

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Pharmacological Chaperone Therapy for Pompe Disease.

Molecules (Basel, Switzerland)

Borie-Guichot, Marc M; Tran, My Lan ML; Génisson, Yves Y; Ballereau, Stéphanie S; Dehoux, Cécile C

Publication Date: 2021-11-29

Variant appearance in text: PC: N370S

PubMed Link: 34885805

Variant Present in the following documents:

• Main text

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Pharmacological Chaperone Therapy for Pompe Disease.

Molecules (Basel, Switzerland)

Borie-Guichot, Marc M; Tran, My Lan ML; Génisson, Yves Y; Ballereau, Stéphanie S; Dehoux, Cécile C

Publication Date: 2021-11-29

Variant appearance in text: PC: N370S

PubMed Link: 34885805

Variant Present in the following documents:

• Main text

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Glucosylceramide in cerebrospinal fluid of patients with GBA-associated and idiopathic Parkinson's disease enrolled in PPMI.

Npj Parkinson'S Disease

Huh, Young Eun YE; Park, Hyejung H; Chiang, Ming Sum Ruby MSR; Tuncali, Idil I; Liu, Ganqiang G; Locascio, Joseph J JJ; Shirvan, Julia J; Hutten, Samantha J SJ; Rotunno, Melissa S MS; Viel, Catherine C; Shihabuddin, Lamya S LS; Wang, Bing B; Sardi, Sergio Pablo SP; Scherzer, Clemens R CR

Publication Date: 2021-11-22

Variant appearance in text: PC: N370S

PubMed Link: 34811369

Variant Present in the following documents:

• Main text
• 41531_2021_Article_241.pdf

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Alpha-Synuclein and Lipids: The Elephant in the Room?

Cells

Sarchione, Alessia A; Marchand, Antoine A; Taymans, Jean-Marc JM; Chartier-Harlin, Marie-Christine MC

Publication Date: 2021-09-17

Variant appearance in text: PC: N370S

PubMed Link: 34572099

Variant Present in the following documents:

• Main text

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A Practical Approach to Early-Onset Parkinsonism.

Journal Of Parkinson'S Disease

Riboldi, Giulietta M GM; Frattini, Emanuele E; Monfrini, Edoardo E; Frucht, Steven J SJ; Di Fonzo, Alessio A

Publication Date: 2022

Variant appearance in text: PC: N370S

PubMed Link: 34569973

Variant Present in the following documents:

• jpd-12-jpd212815.pdf

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Piperidine Azasugars Bearing Lipophilic Chains: Stereoselective Synthesis and Biological Activity as Inhibitors of Glucocerebrosidase (GCase).

The Journal Of Organic Chemistry

Clemente, Francesca F; Matassini, Camilla C; Giachetti, Sara S; Goti, Andrea A; Morrone, Amelia A; Martínez-Bailén, Macarena M; Orta, Sara S; Merino, Pedro P; Cardona, Francesca F

Publication Date: 2021-09-17

Variant appearance in text: PC: N370S

PubMed Link: 34469155

Variant Present in the following documents:

• Main text

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Disease-, region- and cell type specific diversity of α-synuclein carboxy terminal truncations in synucleinopathies.

Acta Neuropathologica Communications

Hass, Ethan W EW; Sorrentino, Zachary A ZA; Xia, Yuxing Y; Lloyd, Grace M GM; Trojanowski, John Q JQ; Prokop, Stefan S; Giasson, Benoit I BI

Publication Date: 2021-08-28

Variant appearance in text: PC: N370S

PubMed Link: 34454615

Variant Present in the following documents:

• 40478_2021_Article_1242.pdf

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Blood-Brain Barrier and Neurodegenerative Diseases-Modeling with iPSC-Derived Brain Cells.

International Journal Of Molecular Sciences

Wu, Ying-Chieh YC; Sonninen, Tuuli-Maria TM; Peltonen, Sanni S; Koistinaho, Jari J; Lehtonen, Šárka Š

Publication Date: 2021-07-19

Variant appearance in text: PC: N370S

PubMed Link: 34299328

Variant Present in the following documents:

• Main text

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Lewy Body-like Inclusions in Human Midbrain Organoids Carrying Glucocerebrosidase and α-Synuclein Mutations.

Annals Of Neurology

Jo, Junghyun J; Yang, Lin L; Tran, Hoang-Dai HD; Yu, Weonjin W; Sun, Alfred Xuyang AX; Chang, Ya Yin YY; Jung, Byung Chul BC; Lee, Seung-Jae SJ; Saw, Tzuen Yih TY; Xiao, Bin B; Khoo, Audrey Tze Ting ATT; Yaw, Lai-Ping LP; Xie, Jessica Jiaxin JJ; Lokman, Hidayat H; Ong, Wei-Yi WY; Lim, Grace Gui Yin GGY; Lim, Kah-Leong KL; Tan, Eng-King EK; Ng, Huck-Hui HH; Je, Hyunsoo Shawn HS

Publication Date: 2021-09

Variant appearance in text: PC: N370S

PubMed Link: 34288055

Variant Present in the following documents:

• Main text
• ANA-90-490.pdf

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Endoplasmic Reticulum Stress Regulators: New Drug Targets for Parkinson's Disease.

Journal Of Parkinson'S Disease

Kovaleva, Vera V; Saarma, Mart M

Publication Date: 2021

Variant appearance in text: PC: N370S

PubMed Link: 34180421

Variant Present in the following documents:

• jpd-11-jpd212673.pdf

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The Lipoprotein Transport System in the Pathogenesis of Multiple Myeloma: Advances and Challenges.

Frontiers In Oncology

Lazaris, Vasileios V; Hatziri, Aikaterini A; Symeonidis, Argiris A; Kypreos, Kyriakos E KE

Publication Date: 2021

Variant appearance in text: PC: N370S

PubMed Link: 33842343

Variant Present in the following documents:

• fonc-11-638288.pdf

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Sequence of clinical and neurodegeneration events in Parkinson's disease progression.

Brain : A Journal Of Neurology

Oxtoby, Neil P NP; Leyland, Louise-Ann LA; Aksman, Leon M LM; Thomas, George E C GEC; Bunting, Emma L EL; Wijeratne, Peter A PA; Young, Alexandra L AL; Zarkali, Angelika A; Tan, Manuela M X MMX; Bremner, Fion D FD; Keane, Pearse A PA; Morris, Huw R HR; Schrag, Anette E AE; Alexander, Daniel C DC; Weil, Rimona S RS

Publication Date: 2021-04-12

Variant appearance in text: PC: N370S

PubMed Link: 33543247

Variant Present in the following documents:

• awaa461.pdf

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Glucocerebrosidase reduces the spread of protein aggregation in a Drosophila melanogaster model of neurodegeneration by regulating proteins trafficked by extracellular vesicles.

Plos Genetics

Jewett, Kathryn A KA; Thomas, Ruth E RE; Phan, Chi Q CQ; Lin, Bernice B; Milstein, Gillian G; Yu, Selina S; Bettcher, Lisa F LF; Neto, Fausto Carnevale FC; Djukovic, Danijel D; Raftery, Daniel D; Pallanck, Leo J LJ; Davis, Marie Y MY

Publication Date: 2021-02

Variant appearance in text: PC: N370S

PubMed Link: 33539341

Variant Present in the following documents:

• Main text
• pgen.1008859.pdf

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In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy.

Molecular Genetics And Metabolism Reports

Ciana, Giovanni G; Dardis, Andrea A; Pavan, Eleonora E; Da Riol, Rosalia Maria RM; Biasizzo, Jessica J; Ferino, Dania D; Zanatta, Manuela M; Boni, Antonella A; Antonini, Luisa L; Crichiutti, Giovanni G; Bembi, Bruno B

Publication Date: 2020-12

Variant appearance in text: PC: N370S

PubMed Link: 33294373

Variant Present in the following documents:

• Main text
• main.pdf

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A patient with Gaucher disease and plasma cell dyscrasia: bidirectional impact.

Hematology. American Society Of Hematology. Education Program

Zimran, Ari A; Ruchlemer, Rosa R; Revel-Vilk, Shoshana S

Publication Date: 2020-12-04

Variant appearance in text: PC: N370S

PubMed Link: 33275748

Variant Present in the following documents:

• Main text

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Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach.

International Journal Of Molecular Sciences

Menkovic, Iskren I; Boutin, Michel M; Alayoubi, Abdulfatah A; Mercier, François E FE; Rivard, Georges-Étienne GÉ; Auray-Blais, Christiane C

Publication Date: 2020-10-23

Variant appearance in text: PC: N370S

PubMed Link: 33114153

Variant Present in the following documents:

• Main text
• ijms-21-07869.pdf

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Synthesis of "All-Cis" Trihydroxypiperidines from a Carbohydrate-Derived Ketone: Hints for the Design of New β-Gal and GCase Inhibitors.

Molecules (Basel, Switzerland)

Davighi, Maria Giulia MG; Clemente, Francesca F; Matassini, Camilla C; Morrone, Amelia A; Goti, Andrea A; Martínez-Bailén, Macarena M; Cardona, Francesca F

Publication Date: 2020-10-02

Variant appearance in text: PC: N370S

PubMed Link: 33023214

Variant Present in the following documents:

• Main text

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Metabolic alterations in plasma from patients with familial and idiopathic Parkinson's disease.

Aging

Yakhine-Diop, Sokhna M S SMS; Morales-García, José A JA; Niso-Santano, Mireia M; González-Polo, Rosa A RA; Uribe-Carretero, Elisabet E; Martinez-Chacon, Guadalupe G; Durand, Sylvere S; Maiuri, Maria Chiara MC; Aiastui, Ana A; Zulaica, Miren M; Ruíz-Martínez, Javier J; López de Munain, Adolfo A; Pérez-Tur, Jordi J; Pérez-Castillo, Ana A; Kroemer, Guido G; Bravo-San Pedro, José M JM; Fuentes, José M JM

Publication Date: 2020-09-09

Variant appearance in text: PC: N370S

PubMed Link: 32903216

Variant Present in the following documents:

• aging-12-103992.pdf

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Integrated Metabolomics and Proteomics Analysis Reveals Plasma Lipid Metabolic Disturbance in Patients With Parkinson's Disease.

Frontiers In Molecular Neuroscience

Hu, Ling L; Dong, Mei-Xue MX; Huang, Yan-Ling YL; Lu, Chang-Qi CQ; Qian, Qian Q; Zhang, Chun-Cheng CC; Xu, Xiao-Min XM; Liu, Yang Y; Chen, Guang-Hui GH; Wei, You-Dong YD

Publication Date: 2020

Variant appearance in text: PC: Asn370Ser

PubMed Link: 32714143

Variant Present in the following documents:

• fnmol-13-00080.pdf

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Second-Generation Pharmacological Chaperones: Beyond Inhibitors.

Molecules (Basel, Switzerland)

Tran, My Lan ML; Génisson, Yves Y; Ballereau, Stéphanie S; Dehoux, Cécile C

Publication Date: 2020-07-09

Variant appearance in text: PC: N370S

PubMed Link: 32660097

Variant Present in the following documents:

• Main text

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Interplay Between Lipid Metabolism and Autophagy.

Frontiers In Cell And Developmental Biology

Xie, Yangchun Y; Li, Jingbo J; Kang, Rui R; Tang, Daolin D

Publication Date: 2020

Variant appearance in text: PC: N370S

PubMed Link: 32582708

Variant Present in the following documents:

• fcell-08-00431.pdf

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Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson's disease pathogenesis.

Acta Neuropathologica Communications

Smolders, Stefanie S; Van Broeckhoven, Christine C

Publication Date: 2020-05-06

Variant appearance in text: PC: Asn370Ser

PubMed Link: 32375870

Variant Present in the following documents:

• Main text

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Ultrasensitive RT-QuIC assay with high sensitivity and specificity for Lewy body-associated synucleinopathies.

Acta Neuropathologica

Rossi, Marcello M; Candelise, Niccolò N; Baiardi, Simone S; Capellari, Sabina S; Giannini, Giulia G; Orrù, Christina D CD; Antelmi, Elena E; Mammana, Angela A; Hughson, Andrew G AG; Calandra-Buonaura, Giovanna G; Ladogana, Anna A; Plazzi, Giuseppe G; Cortelli, Pietro P; Caughey, Byron B; Parchi, Piero P

Publication Date: 2020-07

Variant appearance in text: PC: N370S

PubMed Link: 32342188

Variant Present in the following documents:

• Main text

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Coagulation Parameters in Adult Patients With Type-1 Gaucher Disease.

Journal Of Hematology

Serratrice, Christine C; Cherin, Patrick P; Lidove, Olivier O; Noel, Esther E; Masseau, Agathe A; Leguy-Seguin, Vanessa V; Jaussaud, Roland R; Marie, Isabelle I; Lavigne, Christian C; Maillot, Francois F

Publication Date: 2019-09

Variant appearance in text: PC: N370S

PubMed Link: 32300455

Variant Present in the following documents:

• Main text
• jh-08-121.pdf

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Gait asymmetry in glucocerebrosidase mutation carriers with Parkinson's disease.

Plos One

Gera, Anjali A; O'Keefe, Joan A JA; Ouyang, Bichun B; Liu, Yuanqing Y; Ruehl, Samantha S; Buder, Mark M; Joyce, Jessica J; Purcell, Nicolette N; Pal, Gian G

Publication Date: 2020

Variant appearance in text: PC: N370S

PubMed Link: 31978134

Variant Present in the following documents:

• pone.0226494.pdf

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Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.

Brain : A Journal Of Neurology

Blauwendraat, Cornelis C; Reed, Xylena X; Krohn, Lynne L; Heilbron, Karl K; Bandres-Ciga, Sara S; Tan, Manuela M; Gibbs, J Raphael JR; Hernandez, Dena G DG; Kumaran, Ravindran R; Langston, Rebekah R; Bonet-Ponce, Luis L; Alcalay, Roy N RN; Hassin-Baer, Sharon S; Greenbaum, Lior L; Iwaki, Hirotaka H; Leonard, Hampton L HL; Grenn, Francis P FP; Ruskey, Jennifer A JA; Sabir, Marya M; Ahmed, Sarah S; Makarious, Mary B MB; Pihlstrøm, Lasse L; Toft, Mathias M; van Hilten, Jacobus J JJ; Marinus, Johan J; Schulte, Claudia C; Brockmann, Kathrin K; Sharma, Manu M; Siitonen, Ari A; Majamaa, Kari K; Eerola-Rautio, Johanna J; Tienari, Pentti J PJ; , ; Pantelyat, Alexander A; Hillis, Argye E AE; Dawson, Ted M TM; Rosenthal, Liana S LS; Albert, Marilyn S MS; Resnick, Susan M SM; Ferrucci, Luigi L; Morris, Christopher M CM; Pletnikova, Olga O; Troncoso, Juan J; Grosset, Donald D; Lesage, Suzanne S; Corvol, Jean-Christophe JC; Brice, Alexis A; Noyce, Alastair J AJ; Masliah, Eliezer E; Wood, Nick N; Hardy, John J; Shulman, Lisa M LM; Jankovic, Joseph J; Shulman, Joshua M JM; Heutink, Peter P; Gasser, Thomas T; Cannon, Paul P; Scholz, Sonja W SW; Morris, Huw H; Cookson, Mark R MR; Nalls, Mike A MA; Gan-Or, Ziv Z; Singleton, Andrew B AB

Publication Date: 2020-01-01

Variant appearance in text: PC: N370S

PubMed Link: 31755958

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Twenty- five years of biochemical diagnosis of Gaucher disease: the Egyptian experience.

Heliyon

Fateen, Ekram E; Abdallah, Zeinab Y ZY

Publication Date: 2019-10

Variant appearance in text: PC: N370S

PubMed Link: 31720445

Variant Present in the following documents:

• Main text
• main.pdf

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The interplay of aging, genetics and environmental factors in the pathogenesis of Parkinson's disease.

Translational Neurodegeneration

Pang, Shirley Yin-Yu SY; Ho, Philip Wing-Lok PW; Liu, Hui-Fang HF; Leung, Chi-Ting CT; Li, Lingfei L; Chang, Eunice Eun Seo EES; Ramsden, David Boyer DB; Ho, Shu-Leong SL

Publication Date: 2019

Variant appearance in text: PC: N370S

PubMed Link: 31428316

Variant Present in the following documents:

• 40035_2019_Article_165.pdf

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Genetic risk of Parkinson disease and progression:: An analysis of 13 longitudinal cohorts.

Neurology. Genetics

Iwaki, Hirotaka H; Blauwendraat, Cornelis C; Leonard, Hampton L HL; Liu, Ganqiang G; Maple-Grødem, Jodi J; Corvol, Jean-Christophe JC; Pihlstrøm, Lasse L; van Nimwegen, Marlies M; Hutten, Samantha J SJ; Nguyen, Khanh-Dung H KH; Rick, Jacqueline J; Eberly, Shirley S; Faghri, Faraz F; Auinger, Peggy P; Scott, Kirsten M KM; Wijeyekoon, Ruwani R; Van Deerlin, Vivianna M VM; Hernandez, Dena G DG; Day-Williams, Aaron G AG; Brice, Alexis A; Alves, Guido G; Noyce, Alastair J AJ; Tysnes, Ole-Bjørn OB; Evans, Jonathan R JR; Breen, David P DP; Estrada, Karol K; Wegel, Claire E CE; Danjou, Fabrice F; Simon, David K DK; Ravina, Bernard B; Toft, Mathias M; Heutink, Peter P; Bloem, Bastiaan R BR; Weintraub, Daniel D; Barker, Roger A RA; Williams-Gray, Caroline H CH; van de Warrenburg, Bart P BP; Van Hilten, Jacobus J JJ; Scherzer, Clemens R CR; Singleton, Andrew B AB; Nalls, Mike A MA

Publication Date: 2019-08

Variant appearance in text: PC: N370S

PubMed Link: 31404238

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Cross-examining candidate genes implicated in multiple system atrophy.

Acta Neuropathologica Communications

Katzeff, Jared S JS; Phan, Katherine K; Purushothuman, Sivaraman S; Halliday, Glenda M GM; Kim, Woojin Scott WS

Publication Date: 2019-07-24

Variant appearance in text: PC: N370S

PubMed Link: 31340844

Variant Present in the following documents:

• 40478_2019_Article_769.pdf

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Stereoselective Synthesis of C-2 Alkylated Trihydroxypiperidines: Novel Pharmacological Chaperones for Gaucher Disease.

Acs Medicinal Chemistry Letters

Clemente, Francesca F; Matassini, Camilla C; Goti, Andrea A; Morrone, Amelia A; Paoli, Paolo P; Cardona, Francesca F

Publication Date: 2019-04-11

Variant appearance in text: PC: N370S

PubMed Link: 30996807

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Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.

Genetics And Molecular Biology

Málaga, Diana Rojas DR; Brusius-Facchin, Ana Carolina AC; Siebert, Marina M; Pasqualim, Gabriela G; Saraiva-Pereira, Maria Luiza ML; Souza, Carolina F M de CFM; Schwartz, Ida V D IVD; Matte, Ursula U; Giugliani, Roberto R

Publication Date: 2019

Variant appearance in text: PC: Asn370Ser

PubMed Link: 30985853

Variant Present in the following documents:

• 1415-4757-GMB-1678-4685-GMB-2018-0092.pdf

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Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms.

Movement Disorders : Official Journal Of The Movement Disorder Society

Blauwendraat, Cornelis C; Heilbron, Karl K; Vallerga, Costanza L CL; Bandres-Ciga, Sara S; von Coelln, Rainer R; Pihlstrøm, Lasse L; Simón-Sánchez, Javier J; Schulte, Claudia C; Sharma, Manu M; Krohn, Lynne L; Siitonen, Ari A; Iwaki, Hirotaka H; Leonard, Hampton H; Noyce, Alastair J AJ; Tan, Manuela M; Gibbs, J Raphael JR; Hernandez, Dena G DG; Scholz, Sonja W SW; Jankovic, Joseph J; Shulman, Lisa M LM; Lesage, Suzanne S; Corvol, Jean-Christophe JC; Brice, Alexis A; van Hilten, Jacobus J JJ; Marinus, Johan J; , ; Eerola-Rautio, Johanna J; Tienari, Pentti P; Majamaa, Kari K; Toft, Mathias M; Grosset, Donald G DG; Gasser, Thomas T; Heutink, Peter P; Shulman, Joshua M JM; Wood, Nicolas N; Hardy, John J; Morris, Huw R HR; Hinds, David A DA; Gratten, Jacob J; Visscher, Peter M PM; Gan-Or, Ziv Z; Nalls, Mike A MA; Singleton, Andrew B AB; ,

Publication Date: 2019-06

Variant appearance in text: PC: N370S

PubMed Link: 30957308

Variant Present in the following documents:

• Main text

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Defective Sphingolipids Metabolism and Tumor Associated Macrophages as the Possible Links Between Gaucher Disease and Blood Cancer Development.

International Journal Of Molecular Sciences

Wątek, Marzena M; Piktel, Ewelina E; Wollny, Tomasz T; Durnaś, Bonita B; Fiedoruk, Krzysztof K; Lech-Marańda, Ewa E; Bucki, Robert R

Publication Date: 2019-02-15

Variant appearance in text: PC: N370S

PubMed Link: 30781349

Variant Present in the following documents:

• Main text
• ijms-20-00843.pdf

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Cellular α-synuclein pathology is associated with bioenergetic dysfunction in Parkinson's iPSC-derived dopamine neurons.

Human Molecular Genetics

Zambon, Federico F; Cherubini, Marta M; Fernandes, Hugo J R HJR; Lang, Charmaine C; Ryan, Brent J BJ; Volpato, Viola V; Bengoa-Vergniory, Nora N; Vingill, Siv S; Attar, Moustafa M; Booth, Heather D E HDE; Haenseler, Walther W; Vowles, Jane J; Bowden, Rory R; Webber, Caleb C; Cowley, Sally A SA; Wade-Martins, Richard R

Publication Date: 2019-06-15

Variant appearance in text: PC: N370S

PubMed Link: 30753527

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Transcriptomic immaturity inducible by neural hyperexcitation is shared by multiple neuropsychiatric disorders.

Communications Biology

Murano, Tomoyuki T; Hagihara, Hideo H; Tajinda, Katsunori K; Matsumoto, Mitsuyuki M; Miyakawa, Tsuyoshi T

Publication Date: 2019

Variant appearance in text: PC: N370S

PubMed Link: 30675529

Variant Present in the following documents:

• 42003_2018_277_MOESM4_ESM.xlsx, sheet 1

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Selective Targeting of the Interconversion between Glucosylceramide and Ceramide by Scaffold Tailoring of Iminosugar Inhibitors.

Molecules (Basel, Switzerland)

Baudoin-Dehoux, Cécile C; Castellan, Tessa T; Rodriguez, Frédéric F; Rives, Arnaud A; Stauffert, Fabien F; Garcia, Virginie V; Levade, Thierry T; Compain, Philippe P; Génisson, Yves Y

Publication Date: 2019-01-19

Variant appearance in text: PC: N370S

PubMed Link: 30669468

Variant Present in the following documents:

• Main text

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Conversion of Quinazoline Modulators from Inhibitors to Activators of β-Glucocerebrosidase.

Journal Of Medicinal Chemistry

Zheng, Jianbin J; Jeon, Sohee S; Jiang, Weilan W; Burbulla, Lena F LF; Ysselstein, Daniel D; Oevel, Kristine K; Krainc, Dimitri D; Silverman, Richard B RB

Publication Date: 2019-02-14

Variant appearance in text: PC: N370S

PubMed Link: 30645117

Variant Present in the following documents:

• Main text

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The Role of Lipids in Parkinson's Disease.

Cells

Xicoy, Helena H; Wieringa, Bé B; Martens, Gerard J M GJM

Publication Date: 2019-01-07

Variant appearance in text: PC: N370S

PubMed Link: 30621069

Variant Present in the following documents:

• Main text

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Self-report data as a tool for subtype identification in genetically-defined Parkinson's Disease.

Scientific Reports

Winslow, Ashley R AR; Hyde, Craig L CL; Wilk, Jemma B JB; Eriksson, Nicholas N; Cannon, Paul P; Miller, Melissa R MR; Hirst, Warren D WD

Publication Date: 2018-08-28

Variant appearance in text: PC: N370S

PubMed Link: 30154511

Variant Present in the following documents:

• Main text

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