Cargando…

Glucocerebrosidase mutations in primary parkinsonism

INTRODUCTION: Mutations in the lysosomal glucocerebrosidase (GBA) gene increase the risk of Parkinson's Disease (PD). We determined the frequency and relative risk of major GBA mutations in a large series of Italian patients with primary parkinsonism. METHODS: We studied 2766 unrelated consecut...

Descripción completa

Detalles Bibliográficos
Autores principales:	Asselta, Rosanna, Rimoldi, Valeria, Siri, Chiara, Cilia, Roberto, Guella, Ilaria, Tesei, Silvana, Soldà, Giulia, Pezzoli, Gianni, Duga, Stefano, Goldwurm, Stefano
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier Science 2014
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228056/ https://www.ncbi.nlm.nih.gov/pubmed/25249066 http://dx.doi.org/10.1016/j.parkreldis.2014.09.003

Ejemplares similares

SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population
por: Trotta, Luca, et al.
Publicado: (2012)

The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p
por: Straniero, Letizia, et al.
Publicado: (2017)

LRRK2 mutations in Parkinson's disease: Confirmation of a gender effect in the Italian population
por: Cilia, Roberto, et al.
Publicado: (2014)

Dual Role of G-runs and hnRNP F in the Regulation of a Mutation-Activated Pseudoexon in the Fibrinogen Gamma-Chain Transcript
por: Rimoldi, Valeria, et al.
Publicado: (2013)

The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis
por: Cardamone, Giulia, et al.
Publicado: (2017)

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

DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients()
por: Sironi, Francesca, et al.
Publicado: (2013)

Role of Lysosomal Gene Variants in Modulating GBA ‐Associated Parkinson's Disease Risk
por: Straniero, Letizia, et al.
Publicado: (2022)

First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features
por: Straniero, Letizia, et al.
Publicado: (2018)

Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes
por: Paraboschi, Elvezia Maria, et al.
Publicado: (2015)

Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions
por: Paraboschi, Elvezia Maria, et al.
Publicado: (2018)

Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis
por: Chiereghin, Chiara, et al.
Publicado: (2017)

β-Glucocerebrosidase Deficiency Activates an Aberrant Lysosome-Plasma Membrane Axis Responsible for the Onset of Neurodegeneration
por: Lunghi, Giulia, et al.
Publicado: (2022)

Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients
por: Cardamone, Giulia, et al.
Publicado: (2018)

SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa
por: Chiereghin, Chiara, et al.
Publicado: (2021)

First Independent Replication of the Involvement of LARS2 in Perrault Syndrome by Whole-Exome Sequencing of an Italian Family
por: Soldà, Giulia, et al.
Publicado: (2015)

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing
por: Soldà, Giulia, et al.
Publicado: (2012)

Efficacy of rasagiline and selegiline in Parkinson’s disease: a head-to-head 3-year retrospective case–control study
por: Cereda, Emanuele, et al.
Publicado: (2017)

Erratum to: Efficacy of rasagiline and selegiline in Parkinson’s disease: a head-to-head 3-year retrospective case–control study
por: Cereda, Emanuele, et al.
Publicado: (2017)

Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains
por: Paraboschi, Elvezia Maria, et al.
Publicado: (2017)

Parkinsonism Associated with Glucocerebrosidase Mutation
por: Sunwoo, Mun-Kyung, et al.
Publicado: (2011)

Glucocerebrosidase mutations and Parkinson disease
por: Vieira, Sophia R. L., et al.
Publicado: (2022)

Microtubule Destabilization Is Shared by Genetic and Idiopathic Parkinson’s Disease Patient Fibroblasts
por: Cartelli, Daniele, et al.
Publicado: (2012)

Correction: Microtubule Destabilization Is Shared by Genetic and Idiopathic Parkinson’s Disease Patient Fibroblasts
por: Cartelli, Daniele, et al.
Publicado: (2012)

Association analysis of PARP1 polymorphisms with Parkinson’s disease
por: Brighina, Laura, et al.
Publicado: (2011)

Dysautonomia in Parkinson’s Disease: Impact of Glucocerebrosidase Gene Mutations on Cardiovascular Autonomic Control
por: Carandina, Angelica, et al.
Publicado: (2022)

The relationship between glucocerebrosidase mutations and Parkinson disease
por: Migdalska‐Richards, Anna, et al.
Publicado: (2016)

Hereditary Hypofibrinogenemia with Hepatic Storage
por: Asselta, Rosanna, et al.
Publicado: (2020)

TARDBP mutations in a cohort of Italian patients with Parkinson’s disease and atypical parkinsonisms
por: Tiloca, Cinzia, et al.
Publicado: (2022)

In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear
por: Chiereghin, Chiara, et al.
Publicado: (2023)

Association Between Glucocerebrosidase Mutations and Parkinson's Disease in Ireland
por: Olszewska, Diana A., et al.
Publicado: (2020)

Gait asymmetry in glucocerebrosidase mutation carriers with Parkinson’s disease
por: Gera, Anjali, et al.
Publicado: (2020)

Biochemical consequences of glucocerebrosidase 1 mutations in Parkinson’s disease
por: Yoon, Jeong Hyun, et al.
Publicado: (2023)

Genetic Association and Altered Gene Expression of Mir-155 in Multiple Sclerosis Patients
por: Paraboschi, Elvezia Maria, et al.
Publicado: (2011)

ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy
por: Asselta, Rosanna, et al.
Publicado: (2020)

Editorial: RNA Splicing and Backsplicing: Disease and Therapy
por: Asselta, Rosanna, et al.
Publicado: (2020)

Radiomics and gene expression profile to characterise the disease and predict outcome in patients with lung cancer
por: Kirienko, Margarita, et al.
Publicado: (2021)

Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden
por: Ran, Caroline, et al.
Publicado: (2016)

How I faced my prostate cancer: a molecular biologist’s perspective
por: Zuradelli, Monica, et al.
Publicado: (2021)

Post-Biopsy Cell-Free DNA From Blood: An Open Window on Primary Prostate Cancer Genetics and Biology
por: Corbetta, Marinella, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_cmjck5csu6m62osdrs3rm9o21h