Results 161 to 170 of about 3,074 (177)

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.
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Small Molecule Chaperones for the Treatment of Gaucher Disease and GBA1-Associated Parkinson Disease

Frontiers in Cell and Developmental Biology, 2020
Richard Sam, Ellen Sidransky, Sidransky Ellen   +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
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The L444P Gba1 mutation enhances alpha-synuclein induced loss of nigral dopaminergic neurons in mice

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

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

Movement Disorders
Sophia R L Vieira, , Ellen Sidransky
exaly  

Wing‐Beating Tremor‐like Dyskinesia in a GBA1 Carrier

Movement Disorders Clinical Practice
Sorrentino, Cristiano, Russo, Maria, Picillo, Marina, Barone, Paolo, Erro, Roberto   +4 more
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Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humans

Biochemical and Biophysical Research Communications, 2012
Ellen Sidransky, Klaus Harzer, Ehud Goldin   +2 more
exaly  

The modifying effect of mutant LRRK2 on mutant GBA1-associated Parkinson disease

Human Molecular Genetics
Sharon Hassin-Baer, Moshe Parnas, Saar Anis   +2 more
exaly  

Gba1 E326K renders motor and non-motor symptoms with pathological α-synuclein, tau and glial activation

Brain
Hanseok Ko, Hye Guk Ryu, Sangjune Kim
exaly  

SYNTHETIC GBA1 GENES

VENDITTI CHARLES P, SIDRANSKY ELLEN, HEAD PAMELASARA E, HAN TAE UN, GLEASON ADENRELE M   +4 more
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