Results 21 to 30 of about 4,639 (191)

Variant‐specific effects of GBA1 mutations on dopaminergic neuron proteostasis [PDF]

Journal of Neurochemistry
AbstractGlucocerebrosidase 1 (GBA1) mutations are the most important genetic risk factors for Parkinson's disease (PD). Clinically, mild (e.g., p.N370S) and severe (e.g., p.L444P and p.D409H) GBA1 mutations have different PD phenotypes, with differences in age at disease onset, progression, and the severity of motor and non‐motor symptoms.
Onal, G, Yalçın‐Çakmaklı, G, Özçelik, CE, Boussaad, I, Şeker, UÖŞ, Fernandes, HJR, Demir, H, Krüger, R, Elibol, B, Dökmeci, S, Salman, MM   +10 more
openaire   +7 more sources

Early-Onset Parkinson's Disease with 22q11.2 Microdeletion and Pathogenic GBA1 Variant. [PDF]

Mov Disord Clin Pract
Movement Disorders Clinical Practice, EarlyView.
Reyes NGD, Luca DGD, Martinez-Valbuena I, Boot E, Corral M, Yuen RKC, Marras C, Lang AE, Bassett AS.   +8 more
europepmc   +2 more sources

Impaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload [PDF]

, 2020
Heterozygous mutations of the lysosomal enzyme glucocerebrosidase (GBA1) represent the major genetic risk for Parkinson’s disease (PD), while homozygous GBA1 mutations cause Gaucher disease, a lysosomal storage disorder, which may involve severe ...
Szabadkai, G, Massaro, G, Bhosale, G, Waddington, SN, Plotegher, N, Zambon, F, Rahim, AA, Duchen, MR, Guella, G, Ferrazza, R, Perocheau, D   +10 more
core   +4 more sources

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.
SANSONETTI, FRANCA
openaire   +2 more sources

GBA1 Thr408Met mutation in a patient with Parkinson’s disease

Zhongguo Linchuang Yixue
GBA1 gene mutation is an important genetic risk factor for Parkinson’s disease (PD). This paper reports a case of a 43-year-old male PD patient carrying a rare heterozygous Thr408Met mutation in the GBA1 gene identified through whole-exome sequencing ...
Yi ZHAO, Junwen LI, Chunlian JU, Weibin QIU, Bo ZUO, Zhigang YANG, Yansheng LI   +6 more
doaj   +2 more sources

Is Gauchian genotyping of GBA1 variants reliable?

Communications Biology, 2023
Abstract Biallelic mutations in GBA1 result in Gaucher disease (GD), the inherited deficiency of glucocerebrosidase. Variants in GBA1 are also a common genetic risk factor for Parkinson disease (PD). Currently, some PD centers screen for mutant
Nahid Tayebi, Jens Lichtenberg, Ellen Hertz, Ellen Sidransky   +3 more
openaire   +4 more sources

Phenotypic effect of GBA1 variants in individuals with and without Parkinson's disease: The RAPSODI study [PDF]

, 2023
Background: Variants in the GBA1 gene cause the lysosomal storage disorder Gaucher disease (GD). They are also risk factors for Parkinson's disease (PD), and modify the expression of the PD phenotype.
Menozzi, E, Higgins, A, Moreno-Martinez, D, Toffoli, M, Loefflad, N, Limbachiya, N, Chohan, H, Hughes, D, Bestwick, J, Schapira, AHV, Proukakis, C, Farbos, A, Lee-Yin, C, Colclough, K, Koletsi, S, Mezabrovschi, R, Lucas-Del-Pozo, S, Fierli, F, Schrag, A, Mullin, S, Yalkic, S, Jeffries, AR, Rahall, S, Noyce, A, Jesuthasan, A   +24 more
core   +4 more sources

GBA1 variants in Brazilian Gaucher disease patients

Molecular Genetics and Metabolism Reports, 2023
Gaucher disease (GD) is an autosomal recessive lysosomal disorder caused by pathogenic variants in GBA1 which result in the deficient activity of glucocerebrosidase (GCase). There are few data on the genetic characterization of Brazilian GD patients.
Suelen Porto Basgalupp, Vivian Altmann, Filippo Pinto e Vairo, Ida Vanessa Doederlein Schwartz, Marina Siebert, Renata Cravo, Erlane M. Ribeiro, Augusto C. dos Santos, Louise L. de Camargo Pinto, Carolina C. Militão, Luiz Fernando Andrade   +10 more
openaire   +3 more sources

Integrating Gaucher disease (GD) into mainstream hematological curriculum training. [PDF]

Hemasphere
HemaSphere, Volume 10, Issue 10, October 2026.
Bradley C, Symeonidis A, Salek S, Jacob N.   +3 more
europepmc   +2 more sources

Role of μ-glucosidase 2 in aberrant glycosphingolipid metabolism: model of glucocerebrosidase deficiency in zebrafish

Journal of Lipid Research, 2019
μ-glucosidases [GBA1 (glucocerebrosidase) and GBA2] are ubiquitous essential enzymes. Lysosomal GBA1 and cytosol-facing GBA2 degrade glucosylceramide (GlcCer); GBA1 deficiency causes Gaucher disease, a lysosomal storage disorder characterized by ...
Lindsey T. Lelieveld, Mina Mirzaian, Chi-Lin Kuo, Marta Artola, Maria J. Ferraz, Remco E.A. Peter, Hisako Akiyama, Peter Greimel, Richard J.B.H.N. van den Berg, Herman S. Overkleeft, Rolf G. Boot, Annemarie H. Meijer, Johannes M.F.G. Aerts   +12 more
doaj   +1 more source