Results 61 to 70 of about 2,680 (134)

The emerging role of autophagic-lysosomal dysfunction in Gaucher disease and Parkinson's disease

Neural Regeneration Research, 2017
Gaucher disease (GD), the commonest lysosomal storage disorder, results from the lack or functional deficiency of glucocerebrosidase (GCase) secondary to mutations in the GBA1 gene. There is an established association between GBA1 mutations and Parkinson'
Kerri J Kinghorn, Amir M Asghari, Jorge Iván Castillo-Quan   +2 more
doaj   +1 more source

Diagnostic Challenge of Pediatric Gaucher Disease in a Low‐Resource South Asian Setting: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Gaucher disease is a rare autosomal recessive lysosomal storage disorder that is caused by a deficiency of the enzyme “β‐glucocerebrosidase”, leading to the accumulation of glucocerebroside within macrophages. It commonly presents with hepatosplenomegaly, cytopenias, and bone marrow infiltration.
Muhammad Waqas, Rahila Bano, Muhammad Usman Haider, Kumar Abhishek, Arshad Mehmood, Aqeel Abbas, Abbas Ali, Talha Basheer, Rafiya Muhammad Altaf, Yahya Samadi   +9 more
wiley   +1 more source

Addressing the Challenges of Translating LRRK2 Biology into Disease‐Modifying Therapies: The LRRK2 Investigative Therapeutics Exchange Initiative

Movement Disorders, EarlyView.
Esther Sammler, Francesca Tonelli, Michelle Durborow, Jim McNasby, Todd Sherer, Mahmood Ahmed, Stevan W. Djuric, Kalpana Merchant, Alastair Reith, Darryle Schoepp, Christine Klein, Shalini Padmanabhan, Dario R. Alessi   +12 more
wiley   +1 more source

A Systematic Review on Disease‐Modifying Therapies in Parkinsonian Disorders

Clinical Pharmacology &Therapeutics, Volume 120, Issue 2, Page 357-374, August 2026.
Parkinsonian disorders, including Parkinson's disease, Lewy body dementia, multiple system atrophy, and progressive supranuclear palsy, are progressive neurodegenerative conditions with no treatment options to slow disease progression. This systematic review provides an overview of evidence of disease‐modifying therapies that have been evaluated in ...
Pepijn P.N.M. Eijsvogel, Lars M.G. Smits, Philip H.C. Kremer, Geert Jan Groeneveld   +3 more
wiley   +1 more source

Complementary Mitochondrial and α‐Synuclein Signatures Refine Biological Stratification of Parkinson's Disease

Movement Disorders, EarlyView.
Julia C. Fitzgerald, Patrick May, Anne Grünewald   +2 more
wiley   +1 more source

Glucocerebrosidase and its relevance to Parkinson disease

Molecular Neurodegeneration, 2019
Mutations in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, are among the most common known genetic risk factors for the development of Parkinson disease and related synucleinopathies.
Jenny Do, Cindy McKinney, Pankaj Sharma, Ellen Sidransky   +3 more
doaj   +1 more source

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene. [PDF]

Front Pediatr, 2023
Liu Q, Shen Z, Pan H, Ma S, Xiong F, He F.   +5 more
europepmc   +1 more source

Generation and characterization of induced pluripotent stem cell lines from one Parkinson’s disease patient carrying the GBA1 T369M variant and two variant-free controls

Stem Cell Research
The p.Thr369Met variant in the glucosylcerebrosidase Beta I gene (GBA1) is associated with Parkinson disease (PD) but its impact is debated. We generated and characterized human induced pluripotent stem cells from PBMCs of three PD patients: one carrying
Mahya Hosseini Bondarabadi, Mingqian Xu, Sofie Slingerland, Jim de Leeuw, Iris Sommer, Hermie J.M. Harmsen, Teus van Laar, Sven C.D. van Ijzendoorn   +7 more
doaj   +1 more source

GBA1 Gene Mutations in α-Synucleinopathies-Molecular Mechanisms Underlying Pathology and Their Clinical Significance. [PDF]

Int J Mol Sci, 2023
Granek Z, Barczuk J, Siwecka N, Rozpędek-Kamińska W, Kucharska E, Majsterek I.   +5 more
europepmc   +1 more source

Expression of Recombinant Human Glucocerebrosidase Protein in Sunflowers

مجلة بغداد للعلوم, 2019
Molecular farming has become one of the most significant implementations of modern biotechnology to generate modified plant crops to produce medicinal proteins.
Al-Dallee et al.
doaj   +1 more source