Results 71 to 80 of about 4,309 (206)

Blood Glucocerebrosidase Activity and α-Synuclein Levels in Patients with GBA1-Associated Parkinson's Disease and Asymptomatic GBA1 Mutation Carriers [PDF]

Анналы клинической и экспериментальной неврологии
Introduction. Mutations in a GBA1 gene, which encodes a lysosomal enzyme called glucocerebrosidase (GCase), are the most common genetic risk factor for Parkinson's disease (PD). The pathogenesis of PD results from the death of dopaminergic neurons in the
Anton K. Emelyanov, Tatiana S. Usenko, Alena E. Kopytova, Irina V. Miliukhina, Alla A. Timofeeva, Anastasia I. Bezrukova, Darya G. Kulabukhova, Galina V. Baydakova, Mikhail A. Nikolaev, Anna O. Lavrinova, Anastasia V. Kudrevatykh, Alexander S. Zhuravlev, Ekaterina Yu. Zakharova, Sofya N. Pchelina   +13 more
doaj   +1 more source

Investigating rare haematological disorders - A celebration of 10 years of the Sherlock Holmes symposia [PDF]

, 2016
The Sherlock Holmes symposia have been educating haematologists on the need for prompt recognition, diagnosis and treatment of rare haematological diseases for 10 years. These symposia, which are supported by an unrestricted educational grant from Sanofi
Bauduer, F, Bjerrum, OW, Cappellini, MD, Cassiman, D, Fraga, C, Hughes, D, Huijgens, P, Jäger, U, Machaczka, M, Marinakis, T, Massenkeil, G, Mehta, A, Rosenbaum, H, Vallejo, C, Van Droogenbroeck, J, Villarrubia, J, Wondergem, M   +16 more
core   +1 more source

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

Parkinsonism & Related Disorders
Background: 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.
Monica Gagliardi, Maurizio Morelli, Gennarina Arabia, Radha Procopio, Alessia Felicetti, Marco D’Amelio, Mariagrazia Talarico, Antonio Gambardella, Andrea Quattrone, Grazia Annesi, Aldo Quattrone   +10 more
openaire   +1 more source

Genetic and Pathological Testing Attitudes for Parkinson's Disease in At‐Risk Relatives

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is increasingly recognized as a neurodegenerative disorder with a broad clinical spectrum and diverse biomarkers enabling early detection. α‐synuclein seed amplification assays (SAA) and genetic testing now allow identification of PD pathology in asymptomatic individuals.
Tal Weil, Anat Mirelman, Roy N. Alcalay, Nurit Omer, Penina Ponger, Avner Thaler   +5 more
wiley   +1 more source

NIH Toolbox performance of persons with Parkinson's disease according to GBA1 and STN‐DBS status

Annals of Clinical and Translational Neurology
Objective Mutations in the glucocerebrosidase (GBA1) gene and subthalamic nucleus deep brain stimulation (STN‐DBS) are independently associated with cognitive dysfunction in persons with Parkinson's disease (PwP).
Ahmad Almelegy, Srujanesh Gunda, Steven Buyske, Marc Rosenbaum, Sepehr Sani, Mitra Afshari, Leo V. Metman, Christopher G. Goetz, Deborah Hall, M. Maral Mouradian, Gian Pal   +10 more
doaj   +1 more source

The translational potential of human induced pluripotent stem cells for clinical neurology: The translational potential of hiPSCs in neurology [PDF]

, 2016
The induced pluripotent state represents a decade-old Nobel prize-winning discovery. Human-induced pluripotent stem cells (hiPSCs) are generated by the nuclear reprogramming of any somatic cell using a variety of established but evolving methods.
Devine, H, Patani, R
core   +1 more source

Exploring a Role for the Parkinson Disease-Linked GBA1 Gene in Host Responses to Infections

, 2021
Typical Parkinson s Disease (PD) is a complex disease that arises from a combination of factors including genetics, environment, gene-environment interactions, sex and age. How these factors interact has yet to be elucidated. We have previously published roles for PD-linked genes in response to microbial infections in an effort to model gene ...
openaire   +2 more sources

Parkinson's‐Linked LRRK2 and GBA1 Mutations Modulate the Peripheral Immune Response to Pseudomonas aeruginosa

Movement Disorders, EarlyView.
Abstract Background Peripheral disease mechanisms such as immune dysregulation may contribute to Parkinson's disease (PD). To investigate interactions between common PD mutations and immune responses to environmental pathogens, we studied responses to Pseudomonas aeruginosa (P.
Julian R. Mark, Hannah A. Staley, Ann M. Titus, Julian Agin‐Liebes, Alicia Garrido, Laura Hughes, Nicolas Dzamko, Rebecca L. Wallings, Malú Gámez Tansey   +8 more
wiley   +1 more source

GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility

Movement Disorders, EarlyView.
Abstract Background GBA1 variants cause Gaucher's disease (GD) in biallelic forms and increase Parkinson's disease (PD) risk in heterozygous carriers. Carriers of mild or severe variants (causing GD type 1 or types 2–3) can enroll in clinical trials, whereas those with GBA1 variants classified as unknown are typically excluded.
Sitki Cem Parlar, Yoomin Lee, Ziv Gan‐Or   +2 more
wiley   +1 more source

Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1 [PDF]

Annals of Hematology, 2014
Dear Editor, Gaucher disease (GD) is a progressive, multisystem, autosomal recessive lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme, glucocerebrosidase, arising from mutations in the GBA1 gene (1q21) [1]. Hematological symptoms, such as thrombocytopenia or splenomegaly, are frequent disclosing signs of GD type 1 (
Machaczka, Maciej, Klimkowska, Monika
openaire   +1 more source