Results 91 to 100 of about 3,074 (177)

Efficient GBA1 editing via HDR with ssODNs by outcompeting pseudogene-mediated gene conversion upon CRISPR/Cas9 cleavage

Frontiers in Genome Editing
IntroductionCRISPR/Cas9-edited induced pluripotent stem cells (iPSCs) are valuable research models for mechanistic studies. However, gene conversion between a gene-pseudogene pair that share high sequence identity and form direct repeats in proximity on ...
Joseph S. Lagas, Monica F. Sentmanat, Xiaoxia Cui   +2 more
doaj   +1 more source

Analyzing the 'bradykinesia complex' in GBA1-associated Parkinson's disease: A series of three cases. [PDF]

Clin Park Relat Disord
De Riggi M, Birreci D, Martini A, Aloisio S, Angelini L, Grandolfo AS, Bologna M.   +6 more
europepmc   +1 more source

Patient-specific midbrain organoids with CRISPR correction recapitulate neuronopathic Gaucher disease phenotypes and enable evaluation of novel therapies. [PDF]

Elife
Lin Y, Liou B, Fannin V, Adler S, Mayhew CN, Hammonds JE, Hu YC, Tchieu J, Zhang W, Zhao X, Beres RL, Setchell KDR, Kaynak A, Qi X, Feldman RA, Sun Y.   +15 more
europepmc   +1 more source

GBA1 HDR Donor Vector Assembly v1

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

LRRK2 and GBA1 in Lewy body diseases: neuropathological subtypes at opposite ends of a spectrum? [PDF]

Mol Neurodegener
Jha V, Kalia LV.
europepmc   +1 more source

Age-Specific Parkinson Disease Risk in Gaucher Disease Type 1: Data From the ICGG Gaucher Registry. [PDF]

Neurology
Alcalay RN, Mistry P, Di Fonzo A, Batista JL, Bianculli P, Carwile JL, Perichon MG, Balwani M.   +7 more
europepmc   +1 more source

Genotype-phenotype correlations and mutation spectrum of GBA1 in Gaucher disease across Asian populations: a systematic review. [PDF]

Hum Genomics
Konarbayeva A, Atavliyeva S, Auganova D, Baduanova S, Tarlykov P.   +4 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  

Progression of <i>GBA1</i> severe and risk variants: a longitudinal mixed model analysis. [PDF]

Front Aging Neurosci
Hanff AM, McCrum C, Rauschenberger A, Pachchek S, Aguayo GA, Pauly C, Jónsdóttir SR, Tsurkalenko O, Pauly L, Landoulsi Z, Leist AK, May P, Zeegers MP, Krüger R.   +13 more
europepmc   +1 more source

Family studies in Gaucher Disease: a key resource for early diagnosis and personalized treatment strategies. [PDF]

Orphanet J Rare Dis
Vinci M, Giacomarra M, D'Errico A, Fischetto R, Palumbo G, Tartaglione I, Tirelli P, Messina E, Russo M, Francofonte D, Colomba P, Duro G, Zizzo C.   +12 more
europepmc   +1 more source