Results 161 to 170 of about 3,043 (176)

DNA Methylation of α-Synuclein Intron 1 Is Significantly Decreased in the Frontal Cortex of Parkinson’s Individuals with GBA1 Mutations

International Journal of Molecular Sciences, 2023
Adam R Smith, David M Richards, Katie Lunnon   +2 more
exaly  

Sex distribution and classification of GBA1 variants in an Italian cohort of Parkinson's disease patients analyzed over the last seventeen years

Parkinsonism and Related Disorders, 2023
Celeste Panteghini, Alessia Catania, Barbara Garavaglia   +2 more
exaly  

Venglustat in GBA1-related Parkinson's disease – Authors' reply

The Lancet Neurology
S Pablo Sardi, Nir Giladi, Roy N Alcalay, Gary Cuer, Thomas Gasser, Tanya Gurevich, Günter U Höglinger, Kenneth Marek, Claudio PaccheE, Anthony H V Schapira, Clemens R Scherzer, Tanya Simuni, Pascal Minini, M Judith Peterschmi   +13 more
openaire   +2 more sources

The L444P Gba1 mutation enhances alpha-synuclein induced loss of nigral dopaminergic neurons in mice

Brain, 2017
Anna Migdalska-Richards, Michal Wegrzynowicz, Donato A Di Monte   +2 more
exaly  

GBA1 under the microscope: exploring GBA1 mutations role in organelles’ dysfunction, and potential recovery through pharmacological chaperones

This thesis investigates the GBA1 gene, which encodes Glucocerebrosidase (GCase), a lysosomal enzyme critical for glucosylceramide and cholesterol metabolism. Over 300 pathogenic mutations have been identified, including L444P and N370S, which, in homozygous or compound heterozygous forms, cause Gaucher disease.
openaire   +1 more source

GBA1 deficiency negatively affects physiological α-synuclein tetramers and related multimers

Proceedings of the National Academy of Sciences of the United States of America, 2018
Sangjune Kim, Seung Pil Yun, Saebom Lee   +2 more
exaly  

A Human Neural Crest Stem Cell-Derived Dopaminergic Neuronal Model Recapitulates Biochemical Abnormalities in GBA1 Mutation Carriers

Stem Cell Reports, 2017
Shi Yu Yang, Kai-Yin Chau, Jan-Willem Taanman   +2 more
exaly  

Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease

Movement Disorders
Sophia R L Vieira, Marco Toffoli, Elisa Menozzi   +2 more
exaly  

The importance of astrocytes in the pathophysiology of GBA1-associated Parkinson disease

Molecular Genetics and Metabolism, 2018
Benjamin McMahon, Elma Aflaki, Ellen Sidransky   +2 more
openaire   +1 more source

Classification and Genotype–Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review

Movement Disorders
Susen Schaake, Malco Rossi, Björn-Hergen Laabs   +2 more
exaly