Cargando…

GBA Mutations Influence the Release and Pathological Effects of Small Extracellular Vesicles from Fibroblasts of Patients with Parkinson’s Disease

Heterozygous mutations in the GBA gene, encoding the lysosomal enzyme glucocerebrosidase (GCase), are the strongest known genetic risk factor for Parkinson’s disease (PD). The molecular mechanisms underlying the increased PD risk and the variable phenotypes observed in carriers of different GBA muta...

Descripción completa

Detalles Bibliográficos
Autores principales:	Cerri, Silvia, Ghezzi, Cristina, Ongari, Gerardo, Croce, Stefania, Avenali, Micol, Zangaglia, Roberta, Di Monte, Donato A., Valente, Enza Maria, Blandini, Fabio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7927041/ https://www.ncbi.nlm.nih.gov/pubmed/33672321 http://dx.doi.org/10.3390/ijms22042215

Ejemplares similares

Profiling the Biochemical Signature of GBA‐Related Parkinson's Disease in Peripheral Blood Mononuclear Cells
por: Avenali, Micol, et al.
Publicado: (2021)

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

Who is at Risk of Parkinson Disease? Refining the Preclinical Phase of GBA1 and LRRK2 Variant Carriers: a Clinical, Biochemical, and Imaging Approach
por: Menozzi, Elisa, et al.
Publicado: (2023)

Glucocerebrosidase Defects as a Major Risk Factor for Parkinson’s Disease
por: Avenali, Micol, et al.
Publicado: (2020)

The Exosomal/Total α-Synuclein Ratio in Plasma Is Associated With Glucocerebrosidase Activity and Correlates With Measures of Disease Severity in PD Patients
por: Cerri, Silvia, et al.
Publicado: (2018)

Neuroprotective and Symptomatic Effects of Cannabidiol in an Animal Model of Parkinson’s Disease
por: Giuliano, Claudio, et al.
Publicado: (2021)

Ambroxol as a disease-modifying treatment to reduce the risk of cognitive impairment in GBA-associated Parkinson’s disease: a multicentre, randomised, double-blind, placebo-controlled, phase II trial. The AMBITIOUS study protocol
por: Colucci, Fabiana, et al.
Publicado: (2023)

Extracellular Vesicles Derived From Plasma of Patients With Neurodegenerative Disease Have Common Transcriptomic Profiling
por: Sproviero, Daisy, et al.
Publicado: (2022)

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

Different miRNA Profiles in Plasma Derived Small and Large Extracellular Vesicles from Patients with Neurodegenerative Diseases
por: Sproviero, Daisy, et al.
Publicado: (2021)

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)

Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts
por: Zanellati, Maria C., et al.
Publicado: (2015)

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)

Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report
por: Picillo, Marina, et al.
Publicado: (2021)

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

Parkinson’s Disease in Women and Men: What’s the Difference?
por: Cerri, Silvia, et al.
Publicado: (2019)

α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism
por: Yun, Seung Pil, 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)

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

Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease
por: den Heijer, Jonas M., et al.
Publicado: (2020)

Gene Therapy for Parkinson’s Disease Associated with GBA1 Mutations
por: Abeliovich, Asa, et al.
Publicado: (2021)

Activation of the DNA damage response in vivo in synucleinopathy models of Parkinson’s disease
por: Milanese, Chiara, et al.
Publicado: (2018)

Potential therapeutic effects of polyphenols in Parkinson’s disease: in vivo and in vitro pre-clinical studies
por: Giuliano, Claudio, et al.
Publicado: (2020)

Dermal fibroblasts from patients with Parkinson’s disease have normal GCase activity and autophagy compared to patients with PD and GBA mutations
por: Collins, Lucy M, et al.
Publicado: (2018)

GBA Variants Influence Motor and Non-Motor Features of Parkinson’s Disease
por: Jesús, Silvia, et al.
Publicado: (2016)

The Association between E326K of GBA and the Risk of Parkinson's Disease
por: Huang, Yongpan, et al.
Publicado: (2018)

A Meta-Analysis of GBA-Related Clinical Symptoms in Parkinson's Disease
por: Zhang, Yuan, et al.
Publicado: (2018)

Plasma Glucosylsphingosine in GBA1 Mutation Carriers with and without Parkinson's Disease
por: Surface, Matthew, et al.
Publicado: (2021)

GBA1 and The Immune System: A Potential Role in Parkinson’s Disease?
por: Al-Azzawi, Zaid A.M., et al.
Publicado: (2022)

GBA1 Variants and Parkinson’s Disease: Paving the Way for Targeted Therapy
por: Huh, Young Eun, et al.
Publicado: (2023)

GBA1 in Parkinson’s disease: variant detection and pathogenicity scoring matters
por: Gabbert, Carolin, et al.
Publicado: (2023)

Cross-talks among GBA mutations, glucocerebrosidase, and α-synuclein in GBA-associated Parkinson’s disease and their targeted therapeutic approaches: a comprehensive review
por: Behl, Tapan, et al.
Publicado: (2021)

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

Gender biased neuroprotective effect of Transferrin Receptor 2 deletion in multiple models of Parkinson’s disease
por: Milanese, Chiara, et al.
Publicado: (2020)

Visual short-term memory deficits associated with GBA mutation and Parkinson’s disease
por: Zokaei, Nahid, et al.
Publicado: (2014)

A molecular analysis of the GBA gene in Caucasian South Africans with Parkinson's disease
por: Barkhuizen, Melinda, et al.
Publicado: (2017)

Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease
por: Toffoli, Marco, 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)

Cannot write session to /tmp/vufind_sessions/sess_6vnp7a3c9ft6anqssaaacbb3i8