Results 111 to 120 of about 4,639 (191)

GBA1 HDR Donor Vector Assembly v1

This protocol describes the steps to generate GBA1 HDR donor vectors.
openaire   +1 more source

Daily regulation of glucocerebrosidase activity and impact of fixed-time rotarod training in a mouse model of <i>Gba1</i>-associated Parkinson's disease. [PDF]

Front Cell Neurosci
Bertasini C, Tavakolian Haghighi S, Bruno MG, Paio F, Artusi CA, Brunelli M, Schena F, Venturelli M, Moretti U, Romanelli MG, Paolone G.   +10 more
europepmc   +1 more source

β-d-Arabinofuranose-configured Cyclitol Aziridines as Selective, Brain-penetrant Covalent GBA2 Inhibitors. [PDF]

J Am Chem Soc
Lammers RF, Su Q, Mazo L, A Offen W, Ottenhoff R, Bulterman MJ, van der Lienden M, Ferraz MJ, Küllmer F, Ilhan Z, van den Elst H, van der Made I, van Roomen CPAA, de Jongh A, van den Nieuwendijk AMCH, Boot RG, Zelcer N, Davies GJ, Rovira C, Overkleeft HS, Aerts JMFG, Artola M.   +21 more
europepmc   +1 more source

Early-onset parkinsonism as a presenting feature of suspected type 1 Gaucher disease with two pathogenic <i>GBA1</i> variants: a case report. [PDF]

Front Neurosci
Sun Y, Ni R, Yu Y.
europepmc   +1 more source

<i>GBA1</i> variants and mortality in Parkinson's disease: A systematic review and meta-analysis. [PDF]

J Parkinsons Dis
Chan N, Raphael A, Kim J, Haryanto A, Heshmat S, Khoo TK.   +5 more
europepmc   +1 more source

Genetic Architecture of Synaptic Failure in Dementia with Lewy Bodies: From α-Synuclein Proteoforms to GBA1-Mediated Plasticity Deficits. [PDF]

Genes (Basel)
Bougea A.
europepmc   +1 more source

Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array. [PDF]

Clin Park Relat Disord
Step K, Madula L, Kuznetsov N, Maasdorp E, Carr J, van Coller R, Möller M, Mata IF, Bardien S, Global Parkinson's Genetics Program (GP2).   +9 more
europepmc   +1 more source

148 | Lysosomal and synuclein pathology in ipsc-derived dopaminergic neurons from gba1-mutant parkinson’s disease patients

Journal of Biological Research
Parkinson’s disease (PD) is the second most common neurodegenerative disorder and is marked by a progressive decline in motor function resulting from the loss of dopaminergic neurons in the substantia nigra pars compacta and the accumulation of α ...
Società Italiana di Biologia Sperimentale
doaj  

Generation and Characterization of an Osteoclastic Cell Model of Gaucher's Bone Disease. [PDF]

Calcif Tissue Int
Patiño-Salazar JD, Gutiérrez-Ávila JD, Heredero-Jimenez S, Martín-Guerrero E, Martínez-Gil N, Cozar M, Ovejero D, Nogués X, Cinque L, Ardura JA, Gortazar AR, Grinberg D, Balcells S, Garcia-Giralt N, Rabionet R.   +14 more
europepmc   +1 more source

Clinical course and biomarkers in patients with type 1 Gaucher disease and Parkinson's disease: A retrospective cohort study. [PDF]

Mol Genet Metab Rep
Iverson A, Sinha DB, Fierro L, Stauffer C, Naik H, Alcalay RN, Balwani M.   +6 more
europepmc   +1 more source