Generation and characterization of induced pluripotent stem cells from a Parkinson’s disease patient carrying the digenic LRRK2 p.G2019S and GBA1 p.N409S mutations

Generation and characterization of induced pluripotent stem cells from a Parkinson’s disease patient carrying the digenic LRRK2 p.G2019S and GBA1 p.N409S mutations

We describe an induced pluripotent stem cell (iPSC) line that was derived from fibroblasts obtained from a Parkinson’s disease (PD) patient carrying the p.G2019S mutation in the LRRK2 gene and the p.N409S mutation in the GBA1 gene. iPSCs were generated via Sendai virus transduction of Yamanaka facto...

Podrobná bibliografie
Hlavní autoři:	Christiane Oleksy, François Massart, Stefano Goldwurm, Alessia Arado, Giuseppe Arena, Ibrahim Boussaad, Rejko Krüger
Médium:	Článek
Jazyk:	English
Vydáno:	Elsevier 2023-10-01
Edice:	Stem Cell Research
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S1873506123001988

Podobné jednotky

The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the GBA1 Gene
Autor: Tatiana S. Usenko, a další
Vydáno: (2024-01-01)

Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene
Autor: Ana Marote, a další
Vydáno: (2018-04-01)

Detection of ER Stress in iPSC-Derived Neurons Carrying the p.N370S Mutation in the <i>GBA1</i> Gene
Autor: Elena S. Yarkova, a další
Vydáno: (2024-03-01)

GBA mutations p.N370S and p.L444P are associated with Parkinson's disease in patients from Northern Brazil
Autor: Carlos Eduardo de Melo Amaral, a další

EVALUATING THE ROLE OF SNCA, GBA AND LRRK2 IN THE PATHOGENESIS OF PARKINSON’S DISEASE
Autor: Alicia Bautista-Garcia, a další
Vydáno: (2023-10-01)

In vitro genome editing rescues parkinsonism phenotypes in induced pluripotent stem cells-derived dopaminergic neurons carrying LRRK2 p.G2019S mutation
Autor: Kuo-Hsuan Chang, a další
Vydáno: (2021-09-01)

The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects
Autor: Yoo-Mi Kim, a další
Vydáno: (2020-11-01)

Aberrant dopamine transporter and functional connectivity patterns in LRRK2 and GBA mutation carriers
Autor: Amgad Droby, a další
Vydáno: (2022-03-01)

A patient clinically diagnosed as multiple system atrophy harboring LRRK2 p.G2019S
Autor: Shoichiro Ando, a další
Vydáno: (2019-01-01)

Associations of cholinergic system integrity with cognitive decline in GBA1 and LRRK2 mutation carriers
Autor: Julia Schumacher, a další
Vydáno: (2024-06-01)

Genetic variations in GBA1 and LRRK2 genes: Biochemical and clinical consequences in Parkinson disease
Autor: Laura J. Smith, a další
Vydáno: (2022-08-01)

When imaging fails: Pre-operative (vol 88, pg 409, 1995)
Autor: Mukherjee, J, a další
Vydáno: (1996)

The GBA1 D409V mutation exacerbates synuclein pathology to differing extents in two alpha-synuclein models
Autor: Nicole K. Polinski, a další
Vydáno: (2022-06-01)

Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene
Autor: Nadja Gustavsson, a další
Vydáno: (2019-01-01)

Novel Variants in LRRK2 and GBA Identified in Latino Parkinson Disease Cohort Enriched for Caribbean Origin
Autor: Karen Nuytemans, a další
Vydáno: (2020-11-01)

Variant‐specific effects of GBA1 mutations on dopaminergic neuron proteostasis
Autor: Onal, G, a další
Vydáno: (2024)

Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GBA1 D409V knock-in mouse model.
Autor: Nicole K Polinski, a další
Vydáno: (2021-01-01)

D409H GBA1 mutation accelerates the progression of pathology in A53T α-synuclein transgenic mouse model
Autor: Donghoon Kim, a další
Vydáno: (2018-04-01)

Fonctionnelles \(P_n\)-exactes et fonctionnelles \(P_n\)-simples
Autor: I. Raşa
Vydáno: (1981-08-01)

Fonctionnelles \(P_n\)-exactes et fonctionnelles \(P_n\)-simples
Autor: I. Raşa
Vydáno: (1981-08-01)

Derivation, Characterization, and Neural Differentiation of Integration-Free Induced Pluripotent Stem Cell Lines from Parkinson's Disease Patients Carrying SNCA, LRRK2, PARK2, and GBA Mutations.
Autor: Olga Momcilovic, a další
Vydáno: (2016-01-01)

ENAM mutations and digenic inheritance
Autor: Hong Zhang, a další
Vydáno: (2019-10-01)

Generation of isogenic control DJ-1-delP GC13 for the genetic Parkinson‘s disease-patient derived iPSC line DJ-1-delP (LCSBi008-A-1)
Autor: Pauline Mencke, a další
Vydáno: (2022-07-01)

Parkinson’s disease in a patient with GBA and LRRK2 covariants after acute hypoxic insult: a case report
Autor: Yuting Tang, a další
Vydáno: (2023-06-01)

LRRK2 and GBA1 variant carriers have higher urinary bis(monacylglycerol) phosphate concentrations in PPMI cohorts
Autor: Kalpana M. Merchant, a další
Vydáno: (2023-02-01)

α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism
Autor: Seung Pil Yun, a další
Vydáno: (2018-01-01)

P.G. BAYDALA
Vydáno: (2016-02-01)

Correction: Parkinson’s disease in a patient with GBA and LRRK2 covariants after acute hypoxic insult: a case report
Autor: Yuting Tang, a další
Vydáno: (2024-10-01)

Digenic mutations in severe congenital neutropenia
Autor: Manuela Germeshausen, a další
Vydáno: (2010-07-01)

Digenic Inheritance in Cystinuria Mouse Model.
Autor: Meritxell Espino, a další
Vydáno: (2015-01-01)

Exploring digenic inheritance in arrhythmogenic cardiomyopathy
Autor: Eva König, a další
Vydáno: (2017-12-01)

P4.09 EFFECT OF VARDENAFIL ON ARTERIAL STIFFNESS AND WAVE REFLECTION
Autor: D. Terentes-Printzios, a další
Vydáno: (2009-12-01)

Depth of the Moho in northern Baja California using (Pg-Pn)travel times
Autor: Luis M. Reyes, a další
Vydáno: (2001-01-01)

Depth of the Moho in northern Baja California using (Pg-Pn) travel times
Autor: Raul Castro, a další
Vydáno: (2001-12-01)

Components of variation of polygenic systems with digenic epistasis
Autor: José Marcelo Soriano Viana
Vydáno: (2000-12-01)

Antecedents and Context of <i>Digenes Akrites</i>
Autor: George Huxley
Vydáno: (2003-10-01)

Generation of an induced pluripotent stem cell line (SHCDNRi001-A) from a patient with X-linked Alport syndrome carrying a heterozygous p.G409S (c. 1225 G > A) mutation in the COL4A5 gene
Autor: Lei Sun, a další
Vydáno: (2020-05-01)

P122: Association of heterozygous variants in the GBA gene with Lewy body dementia
Autor: Diana Blandon, a další
Vydáno: (2023-01-01)

Early⁃onset Parkinson's disease caused by LRRK2 R1067Q and GBA R202Q variation: one case report
Autor: LIU Chen, a další
Vydáno: (2024-03-01)

Live cell in situ lysosomal GCase activity correlates to alpha-synuclein levels in human differentiated neurons with LRRK2 and GBA1 mutations
Autor: Adahir Labrador-Garrido, a další
Vydáno: (2023-10-01)