Results 51 to 60 of about 4,309 (206)

Neurodegeneration and the ordered assembly of α-synuclein [PDF]

, 2018
In 2017, it was two hundred years since James Parkinson published “An Essay on the Shaking Palsy” and twenty years since α-synuclein aggregation came to the fore.
Goedert, M, Spillantini, MG
core   +1 more source

Establishment of MUi030-A: A human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease

Stem Cell Research, 2023
Gaucher disease (GD) is a common lysosomal storage disease resulting from mutations in the glucocerebrosidase (GBA1) gene. This genetic disorder manifests with symptoms affecting multiple organs, yet the underlying mechanisms leading to pathology remain elusive.
Kitsada Kangboonruang, Tanapat Pornsukjantra, Pirut Tong-Ngam, Tanida Chokpanuwat, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Usanarat Anurathapan, Suradej Hongeng, Nithi Asavapanumas, Kanit Bhukhai, Alisa Tubsuwan   +10 more
openaire   +3 more sources

Impact of Gba2 on neuronopathic Gaucher’s disease and α-synuclein accumulation in medaka (Oryzias latipes)

Molecular Brain, 2021
Homozygous mutations in the lysosomal glucocerebrosidase gene, GBA1, cause Gaucher’s disease (GD), while heterozygous mutations in GBA1 are a strong risk factor for Parkinson’s disease (PD), whose pathological hallmark is intraneuronal α-synuclein (asyn)
Etsuro Nakanishi, Norihito Uemura, Hisako Akiyama, Masato Kinoshita, Sawamura Masanori, Yosuke Taruno, Hodaka Yamakado, Shu-ichi Matsuzawa, Shunichi Takeda, Yoshio Hirabayashi, Ryosuke Takahashi   +10 more
doaj   +1 more source

Two-pore channels and disease [PDF]

, 2018
Two-pore channels (TPCs) are Ca2+-permeable endo-lysosomal ion channels subject to multi-modal regulation. They mediate their physiological effects through releasing Ca2+ from acidic organelles in response to cues such as the second messenger, NAADP ...
Kilpatrick, BS, Patel, S
core   +1 more source

The most common structural variant expected at the GBA1 locus may be detected by a simple amplification method: Implications for screening Parkinson’s disease variants

Clinical Parkinsonism & Related Disorders
Introduction: Recombinant alleles are responsible for a large part of Gaucher disease (GD) causing alterations. This is because GBA1, the gene involved in GD, has a 96 % homologous pseudogene, GBAP1, at a 1.6kb distance.
Roberto Rozenberg, Fabiano Tofoli de Araujo, Hsin Fen Chien, Egberto Reis Barbosa, Lygia V. Pereira   +4 more
doaj   +1 more source

GBA-associated Parkinson’s disease in Hungary: clinical features and genetic insights [PDF]

, 2023
Introduction: Parkinson’s disease (PD) has a complex genetic background involving both rare and common genetic variants. Although a small percentage of cases show a clear Mendelian inheritance pattern, it is much more relevant to identify patients who ...
Balicza Péter, Borsos Beáta, Csabán Dóra, Illés Anett, Klivényi Péter, Kossev Annabel P., Molnár Mária Judit, Szlepák Tamás, Takáts Annamária, Udvari Szabolcs   +9 more
core   +1 more source

False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance

Scientific Reports, 2021
A variant in the GBA1 gene is one of the most common genetic risk factors to develop Parkinson’s disease (PD). Here the serendipitous finding is reported of a polymerase dependent allelic imbalance when using next generation sequencing, potentially ...
Jonas M. den Heijer, Arnoud Schmitz, Peter Lansbury, Valerie C. Cullen, Dana C. Hilt, Vincenzo Bonifati, Geert Jan Groeneveld   +6 more
doaj   +1 more source

The GBA1 D409V mutation exacerbates synuclein pathology to differing extents in two alpha-synuclein models

Disease Models & Mechanisms, 2022
Heterozygous mutations in the GBA1 gene – encoding lysosomal glucocerebrosidase (GCase) – are the most common genetic risk factors for Parkinson's disease (PD).
Nicole K. Polinski, Terina N. Martinez, Sylvie Ramboz, Michael Sasner, Mark Herberth, Robert Switzer, Syed O. Ahmad, Lee J. Pelligrino, Sean W. Clark, Jacob N. Marcus, Sean M. Smith, Kuldip D. Dave, Mark A. Frasier   +12 more
doaj   +1 more source

Clinical and Biological Determinants of Longitudinal Cognitive Function in Patients With GBA1 Variants and Subthalamic Deep Brain Stimulation

Annals of Neurology, EarlyView.
Objective Whether cognitive decline in patients with Parkinson's disease (PD) carrying GBA1 variants is accelerated after subthalamic deep brain stimulation (STN‐DBS) remains controversial. Clarifying long‐term cognitive outcomes is essential for informed decision making.
Moritz A. Loeffler, Philipp Klocke, Isabel Wurster, Stefanie Lerche, Idil Cebi, Thomas Gasser, Alireza Gharabaghi, Kathrin Brockmann, Daniel Weiss   +8 more
wiley   +1 more source

GBA genotype-Parkinson’s phenotype correlation in a cohort of 252 Italian patients from the Tuscany region

Clinical Parkinsonism & Related Disorders
Introduction: heterozygous mutations in the glucocerebrosidase gene (GBA1), encoding the lysosomal enzyme β-glucocerebrosidase (GCase) are the most common genetic risk factor for Parkinson’s disease (PD).
Rodolfo Tonin, Silvia Ramat, Marina Rinaldi, Silvia Falliano, Federica Feo, Francesca Cardona, Camilla Matassini, Guido Mannaioni, Giulia Grigioni, Luca Caremani, Alessandra Govoni, Maria Luisa Della Bona, Giancarlo la Marca, Renzo Guerrini, Amelia Morrone   +14 more
doaj   +1 more source