Cargando…

Dermal fibroblasts from patients with Parkinson’s disease have normal GCase activity and autophagy compared to patients with PD and GBA mutations

Background: Recently, the development of Parkinson’s disease (PD) has been linked to a number of genetic risk factors, of which the most common is glucocerebrosidase (GBA) mutations. Methods: We investigated PD and Gaucher Disease (GD) patient derived skin fibroblasts using biochemistry assays. Resu...

Descripción completa

Detalles Bibliográficos
Autores principales:	Collins, Lucy M, Drouin-Ouellet, Janelle, Kuan, Wei-Li, Cox, Timothy, Barker, Roger A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	F1000 Research Limited 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820594/ https://www.ncbi.nlm.nih.gov/pubmed/29527290 http://dx.doi.org/10.12688/f1000research.12090.2

Ejemplares similares

Live cell in situ lysosomal GCase activity correlates to alpha-synuclein levels in human differentiated neurons with LRRK2 and GBA1 mutations
por: Labrador-Garrido, Adahir, et al.
Publicado: (2023)

The Consequences of GBA Deficiency in the Autophagy–Lysosome System in Parkinson’s Disease Associated with GBA
por: Pradas, Eddie, et al.
Publicado: (2023)

Direct Neuronal Reprogramming for Disease Modeling Studies Using Patient-Derived Neurons: What Have We Learned?
por: Drouin-Ouellet, Janelle, et al.
Publicado: (2017)

Clinical Sphingolipids Pathway in Parkinson’s Disease: From GCase to Integrated-Biomarker Discovery
por: Esfandiary, Ali, et al.
Publicado: (2022)

Dancing Feet Dyskinesia in a Patient with GBA-PD
por: Olszewska, Diana A., et al.
Publicado: (2022)

The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PD
por: Straniero, Letizia, et al.
Publicado: (2020)

Reprogramming Human Adult Fibroblasts into GABAergic Interneurons
por: Bruzelius, Andreas, et al.
Publicado: (2021)

Simple Generation of a High Yield Culture of Induced Neurons from Human Adult Skin Fibroblasts
por: Shrigley, Shelby, et al.
Publicado: (2018)

Early GCase activity is a predictor of long-term cognitive decline in Parkinson’s disease
por: Oftedal, Linn, et al.
Publicado: (2023)

3,4,5‐Trihydroxypiperidine Based Multivalent Glucocerebrosidase (GCase) Enhancers
por: Vanni, Costanza, et al.
Publicado: (2022)

Parkinson's Disease in a Dish: What Patient Specific-Reprogrammed Somatic Cells Can Tell Us about Parkinson's Disease, If Anything?
por: Drouin-Ouellet, J., et al.
Publicado: (2012)

GCase and LIMP2 Abnormalities in the Liver of Niemann Pick Type C Mice
por: van der Lienden, Martijn J. C., et al.
Publicado: (2021)

LRRK2, GBA and their interaction in the regulation of autophagy: implications on therapeutics in Parkinson's disease
por: Pang, Shirley Yin-Yu, et al.
Publicado: (2022)

GCase Enhancers: A Potential Therapeutic Option for Gaucher Disease and Other Neurological Disorders
por: Martínez-Bailén, Macarena, et al.
Publicado: (2022)

Endoplasmic reticulum and lysosomal Ca(2+) stores are remodelled in GBA1-linked Parkinson disease patient fibroblasts
por: Kilpatrick, Bethan S., et al.
Publicado: (2016)

GBA Mutations Influence the Release and Pathological Effects of Small Extracellular Vesicles from Fibroblasts of Patients with Parkinson’s Disease
por: Cerri, Silvia, et al.
Publicado: (2021)

GBA-associated PD: chances and obstacles for targeted treatment strategies
por: Höglinger, Günter, et al.
Publicado: (2022)

Cell‐based therapy for Parkinson's disease: A journey through decades toward the light side of the Force
por: Parmar, Malin, et al.
Publicado: (2018)

Comparative Transcriptome Analysis in Monocyte-Derived Macrophages of Asymptomatic GBA Mutation Carriers and Patients with GBA-Associated Parkinson’s Disease
por: Usenko, Tatiana, et al.
Publicado: (2021)

Toll-Like Receptor Expression in the Blood and Brain of Patients and a Mouse Model of Parkinson’s Disease
por: Drouin-Ouellet, Janelle, et al.
Publicado: (2015)

LRRK2 kinase activity regulates GCase level and enzymatic activity differently depending on cell type in Parkinson’s disease
por: Kedariti, Maria, et al.
Publicado: (2022)

Piperidine Azasugars Bearing Lipophilic Chains: Stereoselective Synthesis and Biological Activity as Inhibitors of Glucocerebrosidase (GCase)
por: Clemente, Francesca, et al.
Publicado: (2021)

Sphingolipid changes in Parkinson L444P GBA mutation fibroblasts promote α-synuclein aggregation
por: Galvagnion, Céline, et al.
Publicado: (2022)

Dual-Task Performance in GBA Parkinson's Disease
por: Srulijes, Karin, et al.
Publicado: (2017)

GBA Variants and Parkinson Disease: Mechanisms and Treatments
por: Smith, Laura, et al.
Publicado: (2022)

Features of GBA-associated Parkinson’s disease at presentation in the UK Tracking Parkinson’s study
por: Malek, Naveed, et al.
Publicado: (2018)

Brain-penetrant heat shock protein amplifier arimoclomol enhances GCase activity in in vitro Gaucher disease models
por: Hettinghouse, Aubryanna, et al.
Publicado: (2018)

α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism
por: Yun, Seung Pil, et al.
Publicado: (2018)

Association of GBA genotype with motor and cognitive decline in Chinese Parkinson’s disease patients
por: Ren, Jingru, et al.
Publicado: (2023)

No evidence for substrate accumulation in Parkinson brains with GBA mutations
por: Gegg, Matthew E., et al.
Publicado: (2015)

Unraveling Autonomic Dysfunction in GBA‐Related Parkinson's Disease
por: Devigili, Grazia, et al.
Publicado: (2023)

Inflammatory CSF profiles and longitudinal development of cognitive decline in sporadic and GBA-associated PD
por: Lerche, Stefanie, et al.
Publicado: (2023)

REST suppression mediates neural conversion of adult human fibroblasts via microRNA‐dependent and ‐independent pathways
por: Drouin‐Ouellet, Janelle, et al.
Publicado: (2017)

A common polymorphism in SNCA is associated with accelerated motor decline in GBA-Parkinson’s disease
por: Stoker, Thomas B, et al.
Publicado: (2020)

Quantitative dopamine transporter imaging assessment in Parkinson's disease patients carrying GBA gene mutations compared with idiopathic PD patients: A case‐control study
por: Grisanti, Sara, et al.
Publicado: (2023)

GBA1 variants in Brazilian Gaucher disease patients
por: Basgalupp, Suelen Porto, et al.
Publicado: (2023)

Characterization of a pathogenic variant in GBA for Parkinson’s disease with mild cognitive impairment patients
por: Jiang, Zhiqiang, et al.
Publicado: (2020)

Association of GBA Genotype With Motor and Functional Decline in Patients With Newly Diagnosed Parkinson Disease
por: Maple-Grødem, Jodi, et al.
Publicado: (2021)

Glucosylceramide in cerebrospinal fluid of patients with GBA-associated and idiopathic Parkinson’s disease enrolled in PPMI
por: Huh, Young Eun, et al.
Publicado: (2021)

Levodopa-Induced Ocular Dyskinesia in an Early-Onset Parkinson Disease Patient With GBA Mutation
por: He, Jia-Ming, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_or0l6m273v0ta9o6es4d3b8h8e