Results 131 to 140 of about 2,830 (159)

Acid β-glucosidase (GBA1) gene mutational spectrum and clinical phenotypes in patients with gaucher disease: seven novel mutations in a multicenter retrospective cohort study from upper Egypt. [PDF]

Mol Cell Pediatr
Youssef MAM, Elsayed SM, Elsayh KI, Taha SA, Abdelmotogaly HSM, Embaby MM.   +5 more
europepmc   +1 more source

Biodistribution of AAV1, AAV5, AAV9, and AAVDJ serotypes after intra-cisterna magna delivery in non-human primates. [PDF]

Mol Ther Methods Clin Dev
Okai T, Sato S, Yasuno H, Nakayama M, Yamamoto S, Sjöqvist S, Otake K, Nakashima M, Deshpande M, Galbreath E, Oak JH, Miyamoto S, Proetzel G.   +12 more
europepmc   +1 more source

Correction: Deregulation of mTORC1-TFEB axis in human iPSC model of <i>GBA1</i>-associated Parkinson's disease. [PDF]

Front Neurosci
Mubariz F, Saadin A, Lingenfelter N, Sarkar C, Banerjee A, Lipinski MM, Awad O.   +6 more
europepmc   +1 more source

Should ITSN1 be considered as a Mendelian Parkinson's disease gene? Description of three novel families. [PDF]

NPJ Parkinsons Dis
Cogan G, Tesson C, Welment L, Clot F, LeGuern E, Lanore A, Dürr A, Cormier-Dequaire F, Debilly B, Planes M, Mangone G, Lesage S, Brice A.   +12 more
europepmc   +1 more source

Metabolomic breath landscape analysis unravels lipid biomarker candidates in patients with genetic and idiopathic Parkinson's disease. [PDF]

NPJ Parkinsons Dis
Malik M, Brüggemann N, Usnich T, Borsche M, Demetrowitsch T, Laabs BH, Schwarz K, Bauer P, Lohmann K, Klein C, Kunze T.   +10 more
europepmc   +1 more source

Metabolomic Changes in Idiopathic and GBA1 Parkinson’s Disease

Walton-Doyle C, Menozzi E, Schapira AH, Barran P.   +3 more
europepmc   +1 more source

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Mitochondria–lysosome crosstalk in GBA1-associated Parkinson’s disease

3 Biotech, 2022
Organelle crosstalk is significant in regulating their respective functions and subsequent cell fate. Mitochondria and lysosomes are amongst the essential organelles in maintaining cellular homeostasis. Mitochondria-lysosome connections, which may develop dynamically in the human neurons, have been identified as sites of bidirectional communication ...
M. Sahyadri, Abhishek P. R. Nadiga, Seema Mehdi, K. Mruthunjaya, Pawan G. Nayak, Vipan K. Parihar, S. N. Manjula   +6 more
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Classification of GBA1 variants in Parkinson’s disease; the GBA1-PD browser

2022
ABSTRACTBackgroundGBA1 variants are among the most common genetic risk factors for Parkinson’s Disease (PD). GBA1 variants can be classified into three categories based on their role in Gaucher’s Disease (GD) or PD: severe, mild, and risk variant (for PD).ObjectivesThis paper aims to generate and share a comprehensive database for GBA1 variants ...
Sitki Cem, Parlar, Francis P, Grenn, Jonggeol Jeffrey, Kim, Cornelis, Baluwendraat, Ziv, Gan-Or   +4 more
openaire   +2 more sources