Results 111 to 120 of about 11,713 (255)

Polymorphisms in the human glucocerebrosidase gene

Genomics, 1992
The two glucocerebrosidase genes from a patient with Gaucher disease were cloned and 8850 bp of each sequenced. Each clone had a single nucleotide change accounting for the clinical glucocerebrosidase deficiency, an A to G transition at cDNA nucleotide 1226 in one clone, and an insertion of a G at cDNA nucleotide 84 in the other clone.
E, Beutler, C, West, T, Gelbart
openaire   +2 more sources

A modulator of wild-type glucocerebrosidase improves pathogenic phenotypes in dopaminergic neuronal models of Parkinson’s disease

Science Translational Medicine, 2019
New small-molecule modulators of wild-type glucocerebrosidase improve pathogenic phenotypes in different cellular models of Parkinson’s disease. Boosting GCase activity in PD Mutations in the GBA1 gene encoding the lysosomal enzyme β-glucocerebrosidase ...
Lena F. Burbulla, S. Jeon, Jianbin Zheng, Pingping Song, R. Silverman, D. Krainc   +5 more
semanticscholar   +1 more source

Genome-wide association study of glucocerebrosidase activity modifiers. [PDF]

Molecular Neurobiology
Abstract One of the most common genetic risk factors for Parkinson’s disease (PD) is variants in GBA1 , which encodes the lysosomal enzyme glucocerebrosidase (GCase). GCase deficiency has been associated with an increased PD risk, but not all individuals with low GCase ...
Emma N. Somerville, Lynne Krohn, Konstanin Senkevich, Eric Yu, Jamil Ahmad, Farnaz Asayesh, Jennifer A. Ruskey, Dan Speigelman, Stanley Fahn, Cheryl Waters, S. Pablo Sardi, Roy N. Alcalay, Ziv Gan‐Or   +12 more
openalex   +4 more sources

Natural‐History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Natural‐history datasets have become pivotal for drug development and for shaping clinical‐practice guidelines in rare diseases, yet many lysosomal storage disorders would benefit from deep phenotyping and modern analytic methods. Our objective was to integrate the past decade of genomic, cellular, treatment‐outcome, and regulatory advances ...
Noor Ul Ain, Maya Vaishnaw, Pramod. K. Mistry   +2 more
wiley   +1 more source

Iminosugar‐Dihydroazulenes as Mutant L444P Glucocerebrosidase Enhancers [PDF]

Chemistry & Biodiversity
AbstractA remarkable enhancer of human glucocerebrosidase enzyme (GCase) was identified among a set of dihydroazulene‐tagged iminosugars. An unprecedented 3.9‐fold increase in GCase activity was detected on fibroblasts bearing the homozygous L444P mutation, which is frequently associated with neuronopathic Gaucher forms, and which commonly results ...
Maria Giulia Davighi, Francesca Clemente, Emilie Sperling Andreasen, Mogens Brøndsted Nielsen, Camilla Matassini, Andrea Goti, Amelia Morrone, Paolo Paoli, Francesca Cardona, Martina Cacciarini   +9 more
openaire   +4 more sources

Ceramides in Parkinson’s Disease: From Recent Evidence to New Hypotheses

Frontiers in Neuroscience, 2019
Ceramides (Cer) constitute a class of lipids present in the cell membranes where they act as structural components, but they can also work as signaling molecules.
Nicoletta Plotegher, Luigi Bubacco, Elisa Greggio, Laura Civiero   +3 more
doaj   +1 more source

Therapeutic Effects of Nizubaglustat in a Mouse Model of GM2 Gangliosidosis

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Nizubaglustat is a novel selective inhibitor of glucosylceramide synthase (GCS) and the non‐lysosomal glucocerebrosidase (NLGase, GbA2) with brain penetrant properties. It is currently in clinical development as an oral treatment for rare lysosomal storage diseases with neurological involvement. One such disease group called GM2 gangliosidosis,
Kyle Landskroner, Kshitiz Singh, Melissa Mitchell, Jagdeep S. Walia   +3 more
wiley   +1 more source

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

Stem Cell Reports, 2017
Numerically the most important risk factor for the development of Parkinson's disease (PD) is the presence of mutations in the glucocerebrosidase GBA1 gene.
Shi-Yu Yang, Michelle Beavan, Kai-Yin Chau, Jan-Willem Taanman, Anthony H.V. Schapira   +4 more
doaj   +1 more source

Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine

Movement Disorders, 2019
Glucocerebrosidase is a lysosomal enzyme. The characterization of a direct link between mutations in the gene coding for glucocerebrosidase (GBA1) with the development of Parkinson's disease and dementia with Lewy bodies has heightened interest in this ...
F. Blandini, R. Cilia, S. Cerri, G. Pezzoli, A. Schapira, S. Mullin, J. Lanciego   +6 more
semanticscholar   +1 more source

The Influence of Genetics in the Early Development of Axial Postural Abnormalities in Parkinson's Disease

Movement Disorders Clinical Practice, Volume 13, Issue 1, Page 230-235, January 2026.
ABSTRACT Background Postural abnormalities (PA) can complicate Parkinson's disease (PD). While age and motor severity are established predictors, the genetic role remains underexplored. Objective To evaluate the influence of major genetic variants on PA development in PD over 4 years.
Ilaria A. Di Vico, Silvia Gallo, Eleonora Bertoncello, Claudia Ledda, Michele Tinazzi, Leonardo Lopiano, Carlo Alberto Artusi   +6 more
wiley   +1 more source