Publications:

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GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.

Bmc Genomics

Gabbert, Carolin C; Schaake, Susen S; Lüth, Theresa T; Much, Christoph C; Klein, Christine C; Aasly, Jan O JO; Farrer, Matthew J MJ; Trinh, Joanne J

Publication Date: 2023-06-13

Variant appearance in text: GBA1: N409S

PubMed Link: 37312046

Variant Present in the following documents:

• Main text
• 12864_2023_Article_9417.pdf
• 12864_2023_9417_MOESM1_ESM.pdf

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Advantages of digital technology in the assessment of bone marrow involvement in Gaucher's disease.

Frontiers In Medicine

Valero-Tena, Esther E; Roca-Espiau, Mercedes M; Verdú-Díaz, Jose J; Diaz-Manera, Jordi J; Andrade-Campos, Marcio M; Giraldo, Pilar P

Publication Date: 2023

Variant appearance in text: GBA: 1226A>G

PubMed Link: 37250646

Variant Present in the following documents:

• Main text
• fmed-10-1098472.pdf

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Pediatric Gaucher Disease Presenting with Massive Splenomegaly and Hepatic Gaucheroma.

Children (Basel, Switzerland)

Bossù, Gianluca G; Pedretti, Laura L; Bertolini, Lorenzo L; Esposito, Susanna S

Publication Date: 2023-05-12

Variant appearance in text: GBA: 1226A>G

PubMed Link: 37238417

Variant Present in the following documents:

• Main text
• children-10-00869.pdf

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Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy.

Biomolecules

Dubiela, Paweł P; Szymańska-Rożek, Paulina P; Eljaszewicz, Andrzej A; Lipiński, Patryk P; Hasiński, Piotr P; Giersz, Dorota D; Walewska, Alicja A; Tynecka, Marlena M; Moniuszko, Marcin M; Tylki-Szymańska, Anna A

Publication Date: 2023-04-03

Variant appearance in text: GBA1: 1226A>G

PubMed Link: 37189391

Variant Present in the following documents:

• Main text
• biomolecules-13-00644.pdf

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Analysis of rare Parkinson's disease variants in millions of people.

Research Square

Pitz, Vanessa V; Makarious, Mary M; Bandrés-Ciga, Sara S; Iwaki, Hirotaka H; Singleton, Andrew A; Nalls, Mike M; Heilbron, Karl K; Blauwendraat, Cornelis C

Publication Date: 2023-04-10

Variant appearance in text: GBA1: N409S; rs76763715

PubMed Link: 37090536

Variant Present in the following documents:

• nihpp-rs2743857v1.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: GBA: Asn409Ser; rs76763715

PubMed Link: 37045813

Variant Present in the following documents:

• Main text
• 41467_2023_Article_37632.pdf

View BVdb publication page

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A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene.

Npj Parkinson'S Disease

Sipilä, Jussi O T JOT; Kytövuori, Laura L; Rauramaa, Tuomas T; Rauhamaa, Hugo H; Kaasinen, Valtteri V; Majamaa, Kari K

Publication Date: 2023-04-05

Variant appearance in text: GBA1: Asn409Ser

PubMed Link: 37019925

Variant Present in the following documents:

• Main text
• 41531_2023_Article_501.pdf

View BVdb publication page

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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: rs76763715

PubMed Link: 37016359

Variant Present in the following documents:

• Main text
• 12883_2023_Article_3188.pdf

View BVdb publication page

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Elevated urine BMP phospholipids in LRRK2 and VPS35 mutation carriers with and without Parkinson's disease.

Npj Parkinson'S Disease

Gomes, Sara S; Garrido, Alicia A; Tonelli, Francesca F; Obiang, Donina D; Tolosa, Eduardo E; Martí, Maria José MJ; Ruiz-Martínez, Javier J; Vinagre-Aragón, Ana A; Hernandez-Eguiazu, Haizea H; Croitoru, Ioana I; Marshall, Vicky L VL; Koenig, Theresa T; Hotzy, Christoph C; Hsieh, Frank F; Sakalosh, Marianna M; Tengstrand, Elizabeth E; Padmanabhan, Shalini S; Merchant, Kalpana K; Bruecke, Christof C; Pirker, Walter W; Zimprich, Alexander A; Sammler, Esther E

Publication Date: 2023-04-04

Variant appearance in text: GBA: Asn409Ser

PubMed Link: 37015928

Variant Present in the following documents:

• Main text
• 41531_2023_Article_482.pdf

View BVdb publication page

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The Bone Biomarker of Quantitative Chemical Shift Imaging in Patients with Type 1 Gaucher Disease Receiving Low-Dose Long-Term Enzyme Replacement Therapy.

Journal Of Clinical Medicine

Zimran, Ari A; Szer, Jeff J; Becker-Cohen, Michal M; Jens, Sjoerd S; Cozma, Claudia C; Revel-Vilk, Shoshana S

Publication Date: 2023-03-13

Variant appearance in text: GBA1: 1226A>G

PubMed Link: 36983221

Variant Present in the following documents:

• Main text
• jcm-12-02220.pdf

View BVdb publication page

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Genetics of Multiple System Atrophy and Progressive Supranuclear Palsy: A Systemized Review of the Literature.

International Journal Of Molecular Sciences

Bougea, Anastasia A

Publication Date: 2023-03-09

Variant appearance in text: GBA: N409S

PubMed Link: 36982356

Variant Present in the following documents:

• ijms-24-05281.pdf

View BVdb publication page

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Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's Disease.

International Journal Of Molecular Sciences

Grigor'eva, Elena V EV; Kopytova, Alena E AE; Yarkova, Elena S ES; Pavlova, Sophia V SV; Sorogina, Diana A DA; Malakhova, Anastasia A AA; Malankhanova, Tuyana B TB; Baydakova, Galina V GV; Zakharova, Ekaterina Y EY; Medvedev, Sergey P SP; Pchelina, Sofia N SN; Zakian, Suren M SM

Publication Date: 2023-02-23

Variant appearance in text: GBA: 1226A>G; rs76763715

PubMed Link: 36901867

Variant Present in the following documents:

• Main text
• ijms-24-04437.pdf

View BVdb publication page

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The Frequency of Korean Patients With Parkinson's Disease Carrying GBA Mutations in a Subgroup With Age at Onset ≤ 55 Years Old.

Journal Of Movement Disorders

Hwangbo, Jin J; Lee, Myung Jun MJ; Kim, Sang Jin SJ; Lee, Jae-Hyeok JH

Publication Date: 2023-03-07

Variant appearance in text: GBA: N409S

PubMed Link: 36872856

Variant Present in the following documents:

• Main text
• jmd-22191.pdf

View BVdb publication page

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Peripheral inflammatory immune response differs among sporadic and familial Parkinson's disease.

Npj Parkinson'S Disease

Muñoz-Delgado, Laura L; Macías-García, Daniel D; Periñán, María Teresa MT; Jesús, Silvia S; Adarmes-Gómez, Astrid D AD; Bonilla Toribio, Marta M; Buiza Rueda, Dolores D; Jiménez-Jaraba, María Del Valle MDV; Benítez Zamora, Belén B; Díaz Belloso, Rafael R; García-Díaz, Sergio S; Martín-Bórnez, Miguel M; Pineda Sánchez, Rocío R; Carrillo, Fátima F; Gómez-Garre, Pilar P; Mir, Pablo P

Publication Date: 2023-01-31

Variant appearance in text: GBA: Asn409Ser

PubMed Link: 36720879

Variant Present in the following documents:

• Main text
• 41531_2023_Article_457.pdf

View BVdb publication page

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Compound heterozygous p.L483P and p.S310G mutations in GBA1 cause type 1 adult Gaucher disease: A case report.

World Journal Of Clinical Cases

Wen, Xiao-Ling XL; Wang, Yao-Zi YZ; Zhang, Xia-Lin XL; Tu, Jia-Qiang JQ; Zhang, Zhi-Juan ZJ; Liu, Xia-Xia XX; Lu, Hai-Yan HY; Hao, Guo-Ping GP; Wang, Xiao-Huan XH; Yang, Lin-Hua LH; Zhang, Rui-Juan RJ

Publication Date: 2022-12-26

Variant appearance in text: GBA1: N409S

PubMed Link: 36683633

Variant Present in the following documents:

• WJCC-10-13426.pdf

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Depression and Parkinson's disease: a Chicken-Egg story.

Aims Neuroscience

Chakraborty, Ashok A; Diwan, Anil A

Publication Date: 2022

Variant appearance in text: rs76763715

PubMed Link: 36660077

Variant Present in the following documents:

• Main text
• neurosci-09-04-027.pdf

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Suicidal attempt with eliglustat overdose.

Jimd Reports

Nadler, Johannes J; Hermanns-Clausen, Maren M; Dilger, Karin K

Publication Date: 2023-01

Variant appearance in text: GBA1: 1226A>G

PubMed Link: 36636596

Variant Present in the following documents:

• Main text
• JMD2-64-23.pdf

View BVdb publication page

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Common and Rare Variants in TMEM175 Gene Concur to the Pathogenesis of Parkinson's Disease in Italian Patients.

Molecular Neurobiology

Palomba, Nicole Piera NP; Fortunato, Giorgio G; Pepe, Giuseppe G; Modugno, Nicola N; Pietracupa, Sara S; Damiano, Immacolata I; Mascio, Giada G; Carrillo, Federica F; Di Giovannantonio, Luca Giovanni LG; Ianiro, Laura L; Martinello, Katiuscia K; Volpato, Viola V; Desiato, Vincenzo V; Acri, Riccardo R; Storto, Marianna M; Nicoletti, Ferdinando F; Webber, Caleb C; Simeone, Antonio A; Fucile, Sergio S; Maglione, Vittorio V; Esposito, Teresa T

Publication Date: 2023-01-07

Variant appearance in text: GBA: N409S

PubMed Link: 36609826

Variant Present in the following documents:

• Main text
• 12035_2022_Article_3203.pdf

View BVdb publication page

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Editorial: Genetic and molecular diversity in Parkinson's disease.

Frontiers In Aging Neuroscience

Abdul Murad, Nor Azian NA; Sulaiman, Siti Aishah SA; Ahmad-Annuar, Azlina A; Mohamed Ibrahim, Norlinah N; Mohamed, Wael W; Md Rani, Shahrul Azmin SA; Mok, Kin Ying KY

Publication Date: 2022

Variant appearance in text: GBA: N409S

PubMed Link: 36589546

Variant Present in the following documents:

• Main text
• fnagi-14-1094914.pdf

View BVdb publication page

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Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects.

Nature Communications

Krohn, Lynne L; Heilbron, Karl K; Blauwendraat, Cornelis C; Reynolds, Regina H RH; Yu, Eric E; Senkevich, Konstantin K; Rudakou, Uladzislau U; Estiar, Mehrdad A MA; Gustavsson, Emil K EK; Brolin, Kajsa K; Ruskey, Jennifer A JA; Freeman, Kathryn K; Asayesh, Farnaz F; Chia, Ruth R; Arnulf, Isabelle I; Hu, Michele T M MTM; Montplaisir, Jacques Y JY; Gagnon, Jean-François JF; Desautels, Alex A; Dauvilliers, Yves Y; Gigli, Gian Luigi GL; Valente, Mariarosaria M; Janes, Francesco F; Bernardini, Andrea A; Högl, Birgit B; Stefani, Ambra A; Ibrahim, Abubaker A; Šonka, Karel K; Kemlink, David D; Oertel, Wolfgang W; Janzen, Annette A; Plazzi, Giuseppe G; Biscarini, Francesco F; Antelmi, Elena E; Figorilli, Michela M; Puligheddu, Monica M; Mollenhauer, Brit B; Trenkwalder, Claudia C; Sixel-Döring, Friederike F; Cochen De Cock, Valérie V; Monaca, Christelle Charley CC; Heidbreder, Anna A; Ferini-Strambi, Luigi L; Dijkstra, Femke F; Viaene, Mineke M; Abril, Beatriz B; Boeve, Bradley F BF; , ; Scholz, Sonja W SW; Ryten, Mina M; Bandres-Ciga, Sara S; Noyce, Alastair A; Cannon, Paul P; Pihlstrøm, Lasse L; Nalls, Mike A MA; Singleton, Andrew B AB; Rouleau, Guy A GA; Postuma, Ronald B RB; Gan-Or, Ziv Z

Publication Date: 2022-12-05

Variant appearance in text: rs76763715

PubMed Link: 36470867

Variant Present in the following documents:

• Main text
• 41467_2022_Article_34732.pdf
• 41467_2022_34732_MOESM2_ESM.pdf
• 41467_2022_34732_MOESM1_ESM.pdf

View BVdb publication page

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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: GBA: N409S

PubMed Link: 36455558

Variant Present in the following documents:

• NIHMS1852590-supplement-MMC2.xlsx, sheet 6
• NIHMS1852590-supplement-MMC1.pdf

View BVdb publication page

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Brain-Derived Neurotrophic Factor (BDNF) Is Associated with Platelet Activity and Bleeding Tendency in Patients with Gaucher Disease.

International Journal Of Molecular Sciences

Azoulay, David D; Naamad, Mira M; Frydman, Dafna D; Broide, Ellen E; Zimran, Ari A; Stemer, Galia G; Revel-Vilk, Shoshana S

Publication Date: 2022-11-12

Variant appearance in text: GBA1: 1226A>G

PubMed Link: 36430458

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pharmacogenes that demonstrate high association evidence according to CPIC, DPWG, and PharmGKB.

Frontiers In Medicine

Alshabeeb, Mohammad A MA; Alyabsi, Mesnad M; Aziz, Mohammad A MA; Abohelaika, Salah S

Publication Date: 2022

Variant appearance in text: rs76763715

PubMed Link: 36388934

Variant Present in the following documents:

• Main text
• fmed-09-1001876.pdf

View BVdb publication page

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Association between the LRP1B and APOE loci in the development of Parkinson's disease dementia.

Brain : A Journal Of Neurology

Real, Raquel R; Martinez-Carrasco, Alejandro A; Reynolds, Regina H RH; Lawton, Michael A MA; Tan, Manuela M X MMX; Shoai, Maryam M; Corvol, Jean-Christophe JC; Ryten, Mina M; Bresner, Catherine C; Hubbard, Leon L; Brice, Alexis A; Lesage, Suzanne S; Faouzi, Johann J; Elbaz, Alexis A; Artaud, Fanny F; Williams, Nigel N; Hu, Michele T M MTM; Ben-Shlomo, Yoav Y; Grosset, Donald G DG; Hardy, John J; Morris, Huw R HR

Publication Date: 2022-11-09

Variant appearance in text: GBA: N409S; rs76763715

PubMed Link: 36348503

Variant Present in the following documents:

• Main text
• awac414.pdf

View BVdb publication page

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: GBA: N409S

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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A multicenter study of genetic testing for Parkinson's disease in the clinical setting.

Npj Parkinson'S Disease

Kovanda, Anja A; Rački, Valentino V; Bergant, Gaber G; Georgiev, Dejan D; Flisar, Dušan D; Papić, Eliša E; Brankovic, Marija M; Jankovic, Milena M; Svetel, Marina M; Teran, Nataša N; Maver, Aleš A; Kostic, Vladimir S VS; Novakovic, Ivana I; Pirtošek, Zvezdan Z; Rakuša, Martin M; Vuletić, Vladimira V; Peterlin, Borut B

Publication Date: 2022-11-04

Variant appearance in text: GBA: 1226A>G

PubMed Link: 36333361

Variant Present in the following documents:

• 41531_2022_Article_408.pdf

View BVdb publication page

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Longitudinal evaluation of olfactory function in individuals with Gaucher disease and GBA1 mutation carriers with and without Parkinson's disease.

Frontiers In Neurology

Lopez, Grisel J GJ; Lichtenberg, Jens J; Tayebi, Nahid N; Ryan, Emory E; Lecker, Abigail L AL; Sidransky, Ellen E

Publication Date: 2022

Variant appearance in text: GBA1: N409S

PubMed Link: 36330429

Variant Present in the following documents:

• Main text
• fneur-13-1039214.pdf

View BVdb publication page

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A Comprehensive Assessment of Qualitative and Quantitative Prodromal Parkinsonian Features in Carriers of Gaucher Disease-Identifying Those at the Greatest Risk.

International Journal Of Molecular Sciences

Becker-Cohen, Michal M; Zimran, Ari A; Dinur, Tama T; Tiomkin, Maayan M; Cozma, Claudia C; Rolfs, Arndt A; Arkadir, David D; Shulman, Elena E; Manor, Orly O; Paltiel, Ora O; Yahalom, Gilad G; Berg, Daniela D; Revel-Vilk, Shoshana S

Publication Date: 2022-10-13

Variant appearance in text: GBA1: 1226A>G

PubMed Link: 36293067

Variant Present in the following documents:

• Main text
• ijms-23-12211.pdf

View BVdb publication page

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Scalable detection of technically challenging variants through modified next-generation sequencing.

Molecular Genetics & Genomic Medicine

Rojahn, Susan S; Hambuch, Tina T; Adrian, Jessika J; Gafni, Erik E; Gileta, Alex A; Hatchell, Hannah H; Johnson, Britt B; Kallman, Ben B; Karfilis, Kate K; Kautzer, Curtis C; Kennemer, Michael M; Kirk, Lloyd L; Kvitek, Daniel D; Lettes, Jessica J; Macrae, Fenner F; Mendez, Fernando F; Paul, Joshua J; Pellegrino, Maurizio M; Preciado, Ronny R; Risinger, Jan J; Schultz, Matthew M; Spurka, Lindsay L; Swamy, Sajani S; Truty, Rebecca R; Usem, Nathan N; Velenich, Andrea A; Aradhya, Swaroop S

Publication Date: 2022-10-17

Variant appearance in text: GBA1: 1226A>G

PubMed Link: 36251442

Variant Present in the following documents:

• MGG3-10-e2072.pdf

View BVdb publication page

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Body-First Subtype of Parkinson's Disease with Probable REM-Sleep Behavior Disorder Is Associated with Non-Motor Dominant Phenotype.

Journal Of Parkinson'S Disease

Pavelka, Lukas L; Rauschenberger, Armin A; Landoulsi, Zied Z; Pachchek, Sinthuja S; Marques, Taina T; Gomes, Clarissa P C CPC; Glaab, Enrico E; May, Patrick P; Krüger, Rejko R; ,

Publication Date: 2022-10-14

Variant appearance in text: GBA: N409S

PubMed Link: 36245388

Variant Present in the following documents:

• jpd-12-jpd223511-s001.pdf

View BVdb publication page

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Cognitive-Driven Activities of Daily Living Impairment as a Predictor for Dementia in Parkinson Disease: A Longitudinal Cohort Study.

Neurology

Becker, Sara S; Bode, Merle M; Brockmann, Kathrin K; Gasser, Thomas T; Michaelis, Katja K; Solbrig, Susanne S; Nuerk, Hans-Christoph HC; Schulte, Claudia C; Maetzler, Walter W; Zimmermann, Milan M; Berg, Daniela D; Liepelt-Scarfone, Inga I

Publication Date: 2022-09-02

Variant appearance in text: GBA: N409S

PubMed Link: 36240089

Variant Present in the following documents:

• Main text
• WNL-2022-201122.pdf

View BVdb publication page

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Potential Role of Sphingolipidoses-Associated Lysosphingolipids in Cancer.

Cancers

Dubot, Patricia P; Astudillo, Leonardo L; Therville, Nicole N; Carrié, Lorry L; Pettazzoni, Magali M; Cheillan, David D; Stirnemann, Jérôme J; Levade, Thierry T; Andrieu-Abadie, Nathalie N; Sabourdy, Frédérique F

Publication Date: 2022-10-05

Variant appearance in text: GBA: N409S

PubMed Link: 36230781

Variant Present in the following documents:

• Main text
• cancers-14-04858.pdf

View BVdb publication page

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