GLUCOCEREBROSIDASE

作品数：11被引量：26H指数：3
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New glucocerebrosidase antibodies can advance research in the field of neurodegenerative disorders
《Neural Regeneration Research》2025年第4期1085-1086,共2页Charis Ma Krystyna Rytel Yu Chen Ellen Sidransky 
In medical research,there are times when the introduction of a new tool can launch scientific discovery in new directions.While antibody development may be considered mundane,in the field of glucocerebrosidase(GCase)r...
关键词：ANTIBODIES cerebro 
Biochemical consequences of glucocerebrosidase 1 mutations in Parkinson’s disease被引量：1
《Neural Regeneration Research》2024年第4期725-727,共3页Jeong Hyun Yoon Chiao-Yin Lee Anthony HV Schapira 
supported by Department of Clinical and Movement Neurosciences,UCL Queen Square Institute of Neurology,London,United Kingdom,WC1N 3BG;Aligning Science Across Parkinson’s(ASAP)Collaborative Research Network,Chevy Chase,MD,United States(to AHVS)。
Parkinson’s disease(PD,OMIM#168600)is a common neurodegenerative disorder with a global prevalence of approximately 8.5 million.PD is characterized by four cardinal motor symptoms:bradykinesia,rigidity,resting tremor...
关键词：cerebro consequences 
Clinical,mechanistic,biomarker,and therapeutic advances in GBA1-associated Parkinson’s disease
《Translational Neurodegeneration》2024年第1期356-376,共21页Xuxiang Zhang Heng Wu Beisha Tang Jifeng Guo 
supported by the National Key Plan for Scientific Research and Development of China(2021YFC2501204);the National Key R&D Program of China(2021YFC2502100);the National Natural Science Foundation of China(81873785,82071439,81974202,U20A20355);Technology Major Project of Hunan Provincial Science and Technology Department(2021SK1010);the Innovation-driven Team Project from Central South University(2020CX016);the Innovative Team Program from the Department of Science&Technology of Hunan Province(2019RS1010).
Parkinson’s disease(PD)is the second most common neurodegenerative disease.The development of PD is closely linked to genetic and environmental factors,with GBA1 variants being the most common genetic risk.Mutations ...
关键词：Gaucher’s disease Parkinson’s disease GLUCOCEREBROSIDASE Mechanisms BIOMARKER Therapy 
Investigational treatments for neurodegenerative diseases caused by inheritance of gene mutations:lessons from recent clinical trials
《Neural Regeneration Research》2023年第8期1679-1683,共5页Bruno P.Imbimbo Viviana Triaca Camillo Imbimbo Robert Nisticò 
We reviewed recent major clinical trials with investigational drugs for the treatment of subjects with neurodegenerative diseases caused by inheritance of gene mutations or associated with genetic risk factors.Specifi...
关键词：Alzheimer's disease amyotrophic lateral sclerosis amyloid precursor protein GLUCOCEREBROSIDASE HUNTINGTIN Huntington's disease Parkinson's disease presenilin 1 presenilin 2 superoxide dismutase 1 
Excitotoxicity, calcium and mitochondria: a triad in synaptic neurodegeneration被引量：16
《Translational Neurodegeneration》2022年第1期917-930,共14页Manish Verma Britney N.Lizama Charleen T.Chu 
Glutamate is the most commonly engaged neurotransmitter in the mammalian central nervous system,acting to mediate excitatory neurotransmission.However,high levels of glutamatergic input elicit excitotoxicity,contribut...
关键词：Mitochondrial calcium Mitochondrial calcium uniporter NCLX antiporter Parkinson’s disease Alzheimer’s disease LRRK2 PINK1 BETA-AMYLOID MITOPHAGY EXCITOTOXICITY Amyotrophic lateral sclerosis Huntington’s disease GLUCOCEREBROSIDASE 
Autophagy-lysosome pathway as a source of candidate biomarkers for Parkinson's disease
《Neuroimmunology and Neuroinflammation》2021年第2期101-110,共10页Nikolaos Papagiannakis Leonidas Stefanis 
Parkinson's disease(PD)is a neurodegenerative disorder characterized by progressive motor disturbances and affects more than 1%of the worldwide population.Diagnosis of PD relies on clinical history and physical examin...
关键词：MACROAUTOPHAGY chaperone-mediated autophagy SYNUCLEINOPATHY Lewy bodies Gaucher disease GLUCOCEREBROSIDASE Hsc70 
Cross-talks among GBA mutations,glucocerebrosidase,and a-synuclein in 66/4-associated Parkinson's disease and their targeted therapeutic approaches:a comprehensive review被引量：3
《Translational Neurodegeneration》2021年第1期27-39,共13页Tapan Behl Gagandeep Kaur Ovidiu Fratila Camelia Buhas Claudia Teodora Judea-Pusta Nicoleta Negrut Cristiana Bustea Simona Bungau 
Current therapies for Parkinson's disease(PD)are palliative,of which the levodopa/carbidopa therapy remains the primary choice but is unable to modulate the progression of neurodegeneration.Due to the complication of ...
关键词：Parkinson's disease Glycosylceramidase GLUCOCEREBROSIDASE Gaucher's disease MUTATIONS Α-SYNUCLEIN 
Precision medicine in Parkinson's disease patients with LRRK2 and GBA risk variants-Let's get even more personal被引量：1
《Translational Neurodegeneration》2020年第4期499-508,共10页Christian U.von Linstow Ziv Gan-Or Patrik Brundin 
P.B.was supported by grants from the National Institutes of Health(1R01DC016519-01,5R21NS 093993-02,1R21 NS 106078-01A1);P.B.received additional awards from Office of the Assistant Secretary of Defense for Health Affairs(Parkinson's Research Program,Award No.W81XWH-17-1-0534);the Peter C.and Emajean Cook Foundation,which are outside but relevant to the submitted work;Z.G.O.was supported by grants from the Michael J.Fox Foundation,the Canadian Consortium on Neurodegeneration in Aging(CCNA),the Canada First Research Excellence Fund(CFREF)from Parkinson Canada,awarded to McGill University for the Healthy Brains for Healthy Lives(HBHL)program.
Parkinson's disease(PD)is characterized by motor deficits and a wide variety of non-motor symptoms.The age of onset,rate of disease progression and the precise profile of motor and non-motor symptoms display considera...
关键词：Parkinson's disease Precision medicine Personalized medicine GLUCOCEREBROSIDASE GCase Leucine-rich repeat kinase-2 Dopamine PD drug trials PD risk variants 
Gaucher disease in Montenegro-genotype/phenotype correlations:Five cases report
《World Journal of Clinical Cases》2019年第12期1475-1482,共8页Snezana Vujosevic Sanja Medenica Vesko Vujicic Milena Dapcevic Nikola Bakic Ruhua Yang Jun Liu Pramod K Mistry 
BACKGROUND The most common lysosomal storage disorder is Gaucher disease (GD). It is a deficiency of lysosomal glucocerebrosidase (GBA) due to biallelic mutations in the GBA gene, characterized by the deposition of gl...
关键词：GAUCHER disease LYSOSOMAL storage disorder GLUCOCEREBROSIDASE GBA gene sequencing GENOTYPE Case REPORT 
The emerging role of autophagic-lysosomal dysfunction in Gaucher disease and Parkinson's disease被引量：5
《Neural Regeneration Research》2017年第3期380-384,共5页Kerri J.Kinghorn Amir M.Asghari Jorge Iván Castillo-Quan 
Gaucher disease（GD）,the commonest lysosomal storage disorder,results from the lack or functional deficiency of glucocerebrosidase（GCase） secondary to mutations in the GBA1 gene.There is an established association ...
关键词：Gaucher disease Parkinson＇s disease DROSOPHILA autophagy LYSOSOME GLUCOCEREBROSIDASE GBA 
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