Publications:

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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: NPC1: L444P

PubMed Link: 36982356

Variant Present in the following documents:

• Main text
• ijms-24-05281.pdf

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The Consequences of GBA Deficiency in the Autophagy-Lysosome System in Parkinson's Disease Associated with GBA.

Cells

Pradas, Eddie E; Martinez-Vicente, Marta M

Publication Date: 2023-01-03

Variant appearance in text: NPC1: L444P

PubMed Link: 36611984

Variant Present in the following documents:

• Main text
• cells-12-00191.pdf

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Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.

Movement Disorders : Official Journal Of The Movement Disorder Society

Straniero, Letizia L; Rimoldi, Valeria V; Monfrini, Edoardo E; Bonvegna, Salvatore S; Melistaccio, Giada G; Lake, Julie J; Soldà, Giulia G; Aureli, Massimo M; Shankaracharya, ; Keagle, Pamela P; Foroud, Tatiana T; Landers, John E JE; Blauwendraat, Cornelis C; Zecchinelli, Anna A; Cilia, Roberto R; Di Fonzo, Alessio A; Pezzoli, Gianni G; Duga, Stefano S; Asselta, Rosanna R

Publication Date: 2022-06

Variant appearance in text: NPC1: L444P

PubMed Link: 35262230

Variant Present in the following documents:

• Main text
• MDS-37-1202.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: NPC1: Leu444Pro

PubMed Link: 34944420

Variant Present in the following documents:

• Main text
• biomolecules-11-01775.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: NPC1: Leu444Pro

PubMed Link: 34944420

Variant Present in the following documents:

• Main text
• biomolecules-11-01775.pdf

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The Role of Cholesterol in α-Synuclein and Lewy Body Pathology in GBA1 Parkinson's Disease.

Movement Disorders : Official Journal Of The Movement Disorder Society

García-Sanz, Patricia P; M F G Aerts, Johannes J; Moratalla, Rosario R

Publication Date: 2021-05

Variant appearance in text: NPC1: L444P

PubMed Link: 33219714

Variant Present in the following documents:

• MDS-36-1070.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: NPC1: Leu444Pro

PubMed Link: 32375870

Variant Present in the following documents:

• Main text
• 40478_2020_Article_935.pdf

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Advances in Sphingolipidoses: CRISPR-Cas9 Editing as an Option for Modelling and Therapy.

International Journal Of Molecular Sciences

Santos, Renato R; Amaral, Olga O

Publication Date: 2019-11-24

Variant appearance in text: NPC1: L444P

PubMed Link: 31771289

Variant Present in the following documents:

• Main text
• ijms-20-05897.pdf

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GBA, Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches.

Cells

Riboldi, Giulietta M GM; Di Fonzo, Alessio B AB

Publication Date: 2019-04-19

Variant appearance in text: NPC1: L444P

PubMed Link: 31010158

Variant Present in the following documents:

• Main text
• cells-08-00364.pdf

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Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes.

Scientific Reports

Ługowska, Agnieszka A; Hetmańczyk-Sawicka, Katarzyna K; Iwanicka-Nowicka, Roksana R; Fogtman, Anna A; Cieśla, Jarosław J; Purzycka-Olewiecka, Joanna Karolina JK; Sitarska, Dominika D; Płoski, Rafał R; Filocamo, Mirella M; Lualdi, Susanna S; Bednarska-Makaruk, Małgorzata M; Koblowska, Marta M

Publication Date: 2019-04-15

Variant appearance in text: NPC1: L444P

PubMed Link: 30988500

Variant Present in the following documents:

• Main text

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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: NPC1: Leu444Pro

PubMed Link: 30985853

Variant Present in the following documents:

• Main text

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Progressive Supranuclear Palsy-Like Phenotype in a GBA E326K Mutation Carrier.

Movement Disorders Clinical Practice

Picillo, Marina M; Petrucci, Simona S; Valente, Enza Maria EM; Pappatà, Sabina S; Squame, Fiorenzo F; Ginevrino, Monia M; Pace, Leonardo L; Barone, Paolo P; Pellecchia, Maria Teresa MT

Publication Date: 2017

Variant appearance in text: NPC1: L444P

PubMed Link: 30838276

Variant Present in the following documents:

• Main text

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Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.

Movement Disorders : Official Journal Of The Movement Disorder Society

Ysselstein, Daniel D; Shulman, Joshua M JM; Krainc, Dimitri D

Publication Date: 2019-05

Variant appearance in text: NPC1: L444P

PubMed Link: 30726573

Variant Present in the following documents:

• Main text

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Parkinsonism in Inherited Metabolic Disorders: Key Considerations and Major Features.

Frontiers In Neurology

Limphaibool, Nattakarn N; Iwanowski, Piotr P; Holstad, Marte Johanne Veilemand MJV; Perkowska, Katarzyna K

Publication Date: 2018

Variant appearance in text: NPC1: L444P

PubMed Link: 30369906

Variant Present in the following documents:

• Main text
• fneur-09-00857.pdf

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Is Parkinson's disease a lysosomal disorder?

Brain : A Journal Of Neurology

Klein, Andrés D AD; Mazzulli, Joseph R JR

Publication Date: 2018-08-01

Variant appearance in text: NPC1: L444P

PubMed Link: 29860491

Variant Present in the following documents:

• Main text

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Combined miglustat and enzyme replacement therapy in two patients with type 1 Gaucher disease: two case reports.

Journal Of Medical Case Reports

Amato, Dominick D; Patterson, Mary Anne MA

Publication Date: 2018-01-27

Variant appearance in text: NPC1: L444P

PubMed Link: 29373994

Variant Present in the following documents:

• 13256_2017_Article_1541.pdf

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Lysosomal storage diseases.

Translational Science Of Rare Diseases

Ferreira, Carlos R CR; Gahl, William A WA

Publication Date: 2017-05-25

Variant appearance in text: NPC1: L444P

PubMed Link: 29152458

Variant Present in the following documents:

• Main text
• trd-2-trd005.pdf

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Mitochondrial Dysfunction in Lysosomal Storage Disorders.

Diseases (Basel, Switzerland)

de la Mata, Mario M; Cotán, David D; Villanueva-Paz, Marina M; de Lavera, Isabel I; Álvarez-Córdoba, Mónica M; Luzón-Hidalgo, Raquel R; Suárez-Rivero, Juan M JM; Tiscornia, Gustavo G; Oropesa-Ávila, Manuel M

Publication Date: 2016-10-11

Variant appearance in text: NPC1: L444P

PubMed Link: 28933411

Variant Present in the following documents:

• Main text
• diseases-04-00031.pdf

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Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report.

Journal Of Medical Case Reports

Ceravolo, Ferdinando F; Grisolia, Michele M; Sestito, Simona S; Falvo, Francesca F; Moricca, Maria Teresa MT; Concolino, Daniela D

Publication Date: 2017-01-20

Variant appearance in text: NPC1: L444P

PubMed Link: 28103924

Variant Present in the following documents:

• 13256_2016_Article_1147.pdf

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An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family.

Bmc Neurology

Cervera-Gaviria, Marivi M; Alcántara-Ortigoza, Miguel Angel MA; González-Del Angel, Ariadna A; Moyers-Pérez, Paola P; Legorreta-Ramírez, Blanca Gabriela Lizet BG; Barrera-Carmona, Nancy N; Cervera-Gaviria, Jaime J

Publication Date: 2016-08-22

Variant appearance in text: NPC1: Leu444Pro

PubMed Link: 27549128

Variant Present in the following documents:

• Main text
• 12883_2016_Article_649.pdf

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Disease models for the development of therapies for lysosomal storage diseases.

Annals Of The New York Academy Of Sciences

Xu, Miao M; Motabar, Omid O; Ferrer, Marc M; Marugan, Juan J JJ; Zheng, Wei W; Ottinger, Elizabeth A EA

Publication Date: 2016-05

Variant appearance in text: NPC1: L444P

PubMed Link: 27144735

Variant Present in the following documents:

• Main text

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A Comparative Study on the Alterations of Endocytic Pathways in Multiple Lysosomal Storage Disorders.

Molecular Pharmaceutics

Rappaport, Jeff J; Manthe, Rachel L RL; Solomon, Melani M; Garnacho, Carmen C; Muro, Silvia S

Publication Date: 2016-02-01

Variant appearance in text: NPC1: L444P

PubMed Link: 26702793

Variant Present in the following documents:

• Main text

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Pompe disease: Shared and unshared features of lysosomal storage disorders.

Rare Diseases (Austin, Tex.)

Lim, Jeong-A JA; Kakhlon, Or O; Li, Lishu L; Myerowitz, Rachel R; Raben, Nina N

Publication Date: 2015

Variant appearance in text: NPC1: L444P

PubMed Link: 26619007

Variant Present in the following documents:

• Main text
• krad-03-01-1068978.pdf

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Role of endosomes and lysosomes in human disease.

Cold Spring Harbor Perspectives In Biology

Maxfield, Frederick R FR

Publication Date: 2014-05-01

Variant appearance in text: NPC1: L444P

PubMed Link: 24789821

Variant Present in the following documents:

• Main text

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Respiratory manifestations in patients with inherited metabolic diseases.

European Respiratory Review : An Official Journal Of The European Respiratory Society

Santamaria, Francesca F; Montella, Silvia S; Mirra, Virginia V; De Stefano, Sara S; Andria, Generoso G; Parenti, Giancarlo G

Publication Date: 2013-12

Variant appearance in text: NPC1: L444P

PubMed Link: 24293461

Variant Present in the following documents:

• Main text
• err-22-130-437.pdf

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A rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cells.

Plos One

Mauri, Victor V; Lotfi, Parisa P; Segatori, Laura L; Sardiello, Marco M

Publication Date: 2013

Variant appearance in text: NPC1: L444P

PubMed Link: 23840811

Variant Present in the following documents:

• pone.0068060.pdf

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Glucocerebrosidase involvement in Parkinson disease and other synucleinopathies.

Frontiers In Neurology

Almeida, Maria do Rosário Mdo R

Publication Date: 2012

Variant appearance in text: NPC1: L444P

PubMed Link: 22557990

Variant Present in the following documents:

• Main text
• fneur-03-00065.pdf

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The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C.

The Biochemical Journal

Salvioli, Rosa R; Tatti, Massimo M; Scarpa, Susanna S; Moavero, Sabrina Maria SM; Ciaffoni, Fiorella F; Felicetti, Federica F; Kaneski, Christine R CR; Brady, Roscoe O RO; Vaccaro, Anna Maria AM

Publication Date: 2005-08-15

Variant appearance in text: NPC1: L444P

PubMed Link: 15826241

Variant Present in the following documents:

• Main text

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