Results 91 to 100 of about 2,830 (159)

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1

Nature Structural & Molecular Biology
Abstract Recently, an African ancestry-specific Parkinson disease (PD) risk signal was identified at the gene encoding glucocerebrosidase ( GBA1 ). This variant ( rs3115534 -G) is carried by ~50% of West African PD cases and imparts a ...
Pilar Álvarez Jerez, Peter Wild Crea, Daniel M. Ramos, Emil K. Gustavsson, Mandy Radefeldt, Andrey Damianov, Mary B. Makarious, Oluwadamilola O. Ojo, Kimberley J. Billingsley, Laksh Malik, Kensuke Daida, Sarah Bromberek, Fangle Hu, Zachary Schneider, Aditya L. Surapaneni, Julia Stadler, Mie Rizig, Huw R. Morris, Caroline B. Pantazis, Hampton L. Leonard, Laurel Screven, Yue A. Qi, Mike A. Nalls, Sara Bandres-Ciga, John Hardy, Henry Houlden, Celeste Eng, Esteban González Burchard, Linda Kachuri, Chia-Ho Lin, Douglas L. Black, Mike A. Nalls, Andrew B. Singleton, Steffen Fischer, Peter Bauer, Xylena Reed, Mina Ryten, Christian Beetz, Michael Ward, Njideka U. Okubadejo, Cornelis Blauwendraat   +40 more
openaire   +5 more sources

Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis

npj Parkinson's Disease
Bi-allelic pathogenic GBA1 variants cause Gaucher disease (GD), whereas certain heterozygous missense variants increase the risk of Parkinson’s disease (PD), although the underlying mechanisms are unclear. Here, we classified GBA1 missense variants using
Aymeric Lanore, Christelle Tesson, Aymeric Basset, François-Xavier Lejeune, Guillaume Cogan, Graziella Mangone, Sara Sambin, Nathalie Bertille, Mathieu Anheim, Isabelle Arnulf, Solène Ansquer, Jean-Philippe Brandel, Christine Brefel-Courbon, Luc Defebvre, Sophie Drapier, Alexandre Eusebsio, Margherita Fabbri, Caroline Giordana, Elodie Hainque, Stephane Lehericy, Ana Marques, Caroline Moreau, Elena Moro, Fabienne Ory, Anne-Sophie Rolland, Stéphane Thobois, Marie Vidailhet, David Devos, Louise-Laure Mariani, Suzanne Lesage, Alexis Brice, Jean-Christophe Corvol, for the Predistim study group, the Iceberg study group, the NSPark study group   +34 more
doaj   +1 more source

Protocol of ASPro-PD: a phase 3 trial of ambroxol to slow progression in genetically stratified Parkinson's disease. [PDF]

J Neurol
Toffoli M, Menozzi E, Cullen M, Chowdhury K, Ahmed S, Freemantle N, Duffen J, Wyse RK, Stott SRW, Matthews H, Dexter D, Ikeji F, Moss J, Watts P, Foltynie T, Kieburtz K, Rascol O, Poewe W, Schapira AHV.   +18 more
europepmc   +1 more source

Inhibition of cysteine protease cathepsin Lincreases the level and activity of lysosomal glucocerebrosidase

JCI Insight
The glucocerebrosidase (GCase) encoded by the GBA1 gene hydrolyzes glucosylceramide (GluCer) to ceramide and glucose in lysosomes. Homozygous or compound heterozygous GBA1 mutations cause the lysosomal storage disease Gaucher disease (GD) due to severe ...
Myung Jong Kim, Soojin Kim, Thomas Reinheckel, Dimitri Krainc   +3 more
doaj   +1 more source

The interplay between GBA1 status and age of onset on cognitive, motor and non-motor outcomes in Parkinson's disease: multicenter cross-sectional study. [PDF]

J Neurol
Ledda C, Gallo S, Avenali M, Artusi CA, Imbalzano G, Donetto F, Montanaro E, Romagnolo A, Mitrotti P, Gallo L, De Micco R, Sant'Elia V, Siciliano M, Tessitore A, Calandra-Buonaura G, Giannini G, Sambati L, Lopiano L, Valente EM, Bozzali M.   +19 more
europepmc   +1 more source

Underlying Mechanisms of GBA1 in Parkinson's Disease and Dementia with Lewy Bodies: Narrative Review. [PDF]

Genes (Basel)
Bougea A.
europepmc   +1 more source

Author Correction: The genetic architecture of Parkinson's disease on the Island of Crete. [PDF]

NPJ Parkinsons Dis
Boura I, Sait S, Marinakis NM, Arvind K, Chia R, Ray A, Vatsellas G, Loupis T, Pavlaki V, Makrythanasis P, Mitsias P, Xiromerisiou G, Scholz SW, Spanaki C.   +13 more
europepmc   +1 more source

Pathological Protein Targets in Parkinson's Disease: Progress Towards the Development of Disease-Modifying Therapies. [PDF]

CNS Drugs
Dzamko N.
europepmc   +1 more source

Case Report: Progressive myoclonus epilepsy as an early manifestation of neuronopathic Gaucher disease. [PDF]

Front Neurosci
Fang Z, Sun X, Hu Y, Xie C, Chen X, Jiang Y.   +5 more
europepmc   +1 more source

N-acetyl-l-leucine lowers α-synuclein levels and improves synaptic function in Parkinson's disease models. [PDF]

J Clin Invest
Song P, Chen C, Franchini R, Duong B, Wang YZ, Coukos R, Xie Z, Savas JN, Zhou Y, Bertoldi M, Surmeier DJ, Parisiadou L, Krainc D.   +12 more
europepmc   +1 more source