Results 101 to 110 of about 4,639 (191)

GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease

Orphanet Journal of Rare Diseases
Background Osteoporosis and its primary complication, fragility fractures, contribute to substantial global morbidity and mortality. Gaucher disease (GD) is caused by glucocerebrosidase (GBA1) deficiency, leading to skeletal complications.
Chung-Hsing Wang, Yu‐Nan Huang, Wen-Ling Liao, Ai-Ru Hsieh, Wei-De Lin, Kai-Wen Liu, Wen-Li Lu, Chieh‐Chen Huang, Yin-Hsiu Chien, Ni-Chung Lee, Pen-Hua Su, Fuu-Jen Tsai   +11 more
doaj   +1 more source

Generation and Treatment of a Novel Severe Model of Visceral Gaucher Disease by Genetic Therapy

Pharmaceutics
Background/Objectives: Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene. Type 1 Gaucher disease is characterised by substrate accumulation in the visceral organs, which occurs in combination ...
Amy F. Geard, Giulia Massaro, Michael P. Hughes, Patrick Arbuthnot, Simon N. Waddington, Ahad A. Rahim   +5 more
doaj   +1 more source

Parasympathetic Dysfunction Prevails in GBA1‐Associated Parkinson's Disease

Movement Disorders Clinical Practice
AbstractBackgroundThe role played by sympathetic and parasympathetic autonomic branches in patients with Parkinson's disease carrying variants in the GBA1 gene (GBA‐PD) is still elusive.ObjectivesTo characterize cardiovascular autonomic function in GBA‐PD and I‐PD patients with early and mid‐stage disease.MethodsThese assessments were performed ...
Tiziana De Santis, Antoniangela Cocco, Paolo Castiglioni, Maurizio Ferrarin, Rossana Mineri, Emanuela Morenghi, Micol Avenali, Alberto Albanese   +7 more
openaire   +3 more sources

Serum phosphorylated tau 217 in GBA1 variant carriers with and without Parkinson disease

It is unclear whether Alzheimer disease pathology drives cognitive decline in Parkinson disease (PD) patients carrying GBA1 variants. We evaluated levels of serum phosphorylated tau 217 (p-tau217) in samples from 29 GBA1-PD, 32 idiopathic PD, 20 non ...
Gegg, Matthew, Veleva, Elena, Mezabrovschi, Roxana, Loefflad, Nadine, Drotsevitch, Vlada, Menozzi, Elisa, Heslegrave, Amanda J, Schapira, Anthony HV, Nazeer, Aleesa, Anderson, Amelia   +9 more
core  

Genetic analysis of GBA1 gene in a cohort of patients with Parkinson's disease

Parkinsonism & Related Disorders
Variants in the GBA1 gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase), are among the strongest genetic risk factors for Parkinson's disease (PD). While several pathogenic mutations are well-characterized, the impact of many rare or novel variants remains unclear.This study is aimed to explore the spectrum of GBA1 variants in a cohort
Gagliardi M., Morelli M., Arabia G., Procopio R., Felicetti A., D'Amelio M., Talarico M., Gambardella A., Quattrone A., Annesi G., Quattrone A.   +10 more
openaire   +2 more sources

Two lysosomal genes ATP13A2 and GBA1 interact to drive neurodegeneration

Molecular Neurodegeneration
Abstract Background Parkinson’s disease (PD) is a genetically complex disorder in which combinations of heterozygous risk variants may contribute to pathogenesis. Many PD risk loci encode lysosomal genes, such as GBA1 , a common
Gu, Mingxue, Zhao, Jinghan, Deng, Mingxi, Lin, Guang, Pan, Xueyang, Lin, Wenwen, Ma, Mengqi, Kim, Jinyong, Byeon, Seul Kee, Pandey, Akhilesh, Lange, Lara M., Shaw, Chad A., Kim, Jonggeol, Trinh, Joanne, Klein, Christine, Kanca, Oguz, Shulman, Joshua M., Bellen, Hugo J.   +17 more
openaire   +2 more sources

Comparing GBA1-Parkinson's disease and idiopathic Parkinson's disease: α-Synuclein oligomers and synaptic density as biomarkers in the skin biopsy

The main genetic risk factors for Parkinson's disease (PD) are presently represented by variants in GBA1 gene encoding for the beta-glucocerebrosidase (GCase). Searching for a peripheral biomarker that can be used for selecting and monitoring patients in
Isaias, Ioannis Ugo, Straniero, Letizia, Novello, Claudia, Calandrella, Daniela, Basellini, Milo Jarno, Asselta, Rosanna, Ferri, Valentina, Pezzoli, Gianni, Calogero, Alessandra Maria, Contaldi, Elena, Cereda, Emanuele, Cappelletti, Graziella, Garrì, Federica, Mazzetti, Samanta, Del Sorbo, Francesca   +14 more
core   +1 more source

CSF d18:1 sphingolipid species in Parkinson disease and dementia with Lewy bodies with and without GBA1 variants

npj Parkinson's Disease
Variants in GBA1 result in dysregulated sphingolipids. We investigated five CSF d18:1 sphingolipid species in a longitudinal multicenter cohort comprising people with Parkinson’s Disease and Dementia with Lewy bodies with and without GBA1 variants and ...
Stefanie Lerche, Isabel Wurster, Enza Maria Valente, Micol Avenali, Daniela Samaniego, Marta Martínez-Vicente, Jorge Hernández-Vara, Ariadna Laguna, Andrea Sturchio, Per Svenningsson, Nicholas P. France, Carrolee Barlow, Sethu Sankaranarayanan, Kathrin Brockmann   +13 more
doaj   +1 more source

Sequencing of LRRK2 and GBA1

, 2019
Sequencing of GBA1 (all exons) and LRRK2 (Exon 31 and 41) for all lines included in the manuscript: LRRK2 kinase activity regulates lysosomal glucocerebrosidase in Parkinson's disease pathogenesis.
Ysselstein, D (via Mendeley Data)
core   +1 more source

Longitudinal olfactory and neuropsychological trajectories across the <i>GBA1</i> spectrum. [PDF]

Brain Commun
Serlin Y, Nishimura S, Patel N, Ryan E, Tayebi N, Lopez G, Sidransky E.   +6 more
europepmc   +1 more source