Cargando…

Selective loss of glucocerebrosidase activity in sporadic Parkinson’s disease and dementia with Lewy bodies

BACKGROUND: Lysosomal dysfunction is thought to be a prominent feature in the pathogenetic events leading to Parkinson’s disease (PD). This view is supported by the evidence that mutations in GBA gene, coding the lysosomal hydrolase β-glucocerebrosidase (GCase), are a common genetic risk factor for...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chiasserini, Davide, Paciotti, Silvia, Eusebi, Paolo, Persichetti, Emanuele, Tasegian, Anna, Kurzawa-Akanbi, Marzena, Chinnery, Patrick F, Morris, Christopher M, Calabresi, Paolo, Parnetti, Lucilla, Beccari, Tommaso
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Short Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4428238/ https://www.ncbi.nlm.nih.gov/pubmed/25881142 http://dx.doi.org/10.1186/s13024-015-0010-2

Ejemplares similares

Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson’s Disease and Dementia with Lewy Bodies
por: Moors, Tim E., et al.
Publicado: (2018)

Factors Influencing the Measurement of Lysosomal Enzymes Activity in Human Cerebrospinal Fluid
por: Persichetti, Emanuele, et al.
Publicado: (2014)

Glucocerebrosidase Mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease
por: Kurzawa-Akanbi, Marzena, et al.
Publicado: (2012)

Cerebrospinal fluid biomarkers for the diagnosis and prognosis of Parkinson’s disease: protocol for a systematic review and individual participant data meta-analysis
por: Eusebi, Paolo, et al.
Publicado: (2017)

Cerebrospinal Fluid Lysosomal Enzymes and Alpha-Synuclein in Parkinson's Disease
por: Parnetti, Lucilla, et al.
Publicado: (2014)

Differential role of CSF fatty acid binding protein 3, α-synuclein, and Alzheimer’s disease core biomarkers in Lewy body disorders and Alzheimer’s dementia
por: Chiasserini, Davide, et al.
Publicado: (2017)

Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson’s Disease
por: Paciotti, Silvia, et al.
Publicado: (2020)

Diagnostic utility of CSF α-synuclein species in Parkinson's disease: protocol for a systematic review and meta-analysis
por: Eusebi, Paolo, et al.
Publicado: (2016)

Dementia with Lewy bodies: an update and outlook
por: Outeiro, Tiago Fleming, et al.
Publicado: (2019)

Exome sequencing in dementia with Lewy bodies
por: Keogh, M J, et al.
Publicado: (2016)

Measurement of CSF core Alzheimer disease biomarkers for routine clinical diagnosis: do fresh vs frozen samples differ?
por: Bellomo, Giovanni, et al.
Publicado: (2020)

Increased levels of CSF total but not oligomeric or phosphorylated forms of alpha-synuclein in patients diagnosed with probable Alzheimer’s disease
por: Majbour, Nour K., et al.
Publicado: (2017)

Risk factors of levodopa-induced dyskinesia in Parkinson’s disease: results from the PPMI cohort
por: Eusebi, Paolo, et al.
Publicado: (2018)

Phosphatidylethanolamine Binding Protein 1 (PEBP1) in Alzheimer’s Disease: ELISA Development and Clinical Validation
por: Wojdała, Anna Lidia, et al.
Publicado: (2022)

No diurnal variation of classical and candidate biomarkers of Alzheimer’s disease in CSF
por: Cicognola, Claudia, et al.
Publicado: (2016)

Immunological Profile of Silent Brain Infarction and Lacunar Stroke
por: Sarchielli, Paola, et al.
Publicado: (2013)

Preanalytical Confounding Factors in the Analysis of Cerebrospinal Fluid Biomarkers for Alzheimer’s Disease: The Issue of Diurnal Variation
por: Cicognola, Claudia, et al.
Publicado: (2015)

Differential role of CSF alpha-synuclein species, tau, and Aβ42 in Parkinson's Disease
por: Parnetti, Lucilla, et al.
Publicado: (2014)

Quantitative electroencephalogram utility in predicting conversion of mild cognitive impairment to dementia with Lewy bodies()
por: Bonanni, Laura, et al.
Publicado: (2015)

Tracing Neurological Diseases in the Presymptomatic Phase: Insights From Neurofilament Light Chain
por: Gaetani, Lorenzo, et al.
Publicado: (2021)

A/T/(N) Profile in Cerebrospinal Fluid of Parkinson’s Disease with/without Cognitive Impairment and Dementia with Lewy Bodies
por: Bellomo, Giovanni, et al.
Publicado: (2020)

Somatic mtDNA variation is an important component of Parkinson's disease
por: Coxhead, Jonathan, et al.
Publicado: (2016)

Are We Ready for Detecting α-Synuclein Prone to Aggregation in Patients? The Case of “Protein-Misfolding Cyclic Amplification” and “Real-Time Quaking-Induced Conversion” as Diagnostic Tools
por: Paciotti, Silvia, et al.
Publicado: (2018)

A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene
por: Sipilä, Jussi O. T., et al.
Publicado: (2023)

Neuro-Immune Cross-Talk in the Striatum: From Basal Ganglia Physiology to Circuit Dysfunction
por: Mancini, Andrea, et al.
Publicado: (2021)

Incidence and Antiseizure Medications of Post-stroke Epilepsy in Umbria: A Population-Based Study Using Healthcare Administrative Databases
por: Costa, Cinzia, et al.
Publicado: (2022)

Evidence for Elevated Cerebrospinal Fluid ERK1/2 Levels in Alzheimer Dementia
por: Spitzer, Philipp, et al.
Publicado: (2011)

Glucocerebrosidase mRNA is Diminished in Brain of Lewy Body Diseases and Changes with Disease Progression in Blood
por: Perez-Roca, Laia, et al.
Publicado: (2018)

Lewy Body–like Inclusions in Human Midbrain Organoids Carrying Glucocerebrosidase and α‐Synuclein Mutations
por: Jo, Junghyun, et al.
Publicado: (2021)

Machine Learning Driven Profiling of Cerebrospinal Fluid Core Biomarkers in Alzheimer’s Disease and Other Neurological Disorders
por: Bellomo, Giovanni, et al.
Publicado: (2021)

Potential diagnostic value of CSF metabolism-related proteins across the Alzheimer’s disease continuum
por: Paciotti, Silvia, et al.
Publicado: (2023)

A new enzyme-linked immunosorbent assay for neurofilament light in cerebrospinal fluid: analytical validation and clinical evaluation
por: Gaetani, Lorenzo, et al.
Publicado: (2018)

Prevalence and risk of progression of preclinical Alzheimer’s disease stages: a systematic review and meta-analysis
por: Parnetti, Lucilla, et al.
Publicado: (2019)

The levels of the NMDA receptor co-agonist D-serine are reduced in the substantia nigra of MPTP-lesioned macaques and in the cerebrospinal fluid of Parkinson’s disease patients
por: Nuzzo, Tommaso, et al.
Publicado: (2019)

Post-mortem ventricular cerebrospinal fluid cell-free-mtDNA in neurodegenerative disease
por: Lowes, Hannah, et al.
Publicado: (2020)

Analysis of α-synuclein species enriched from cerebral cortex of humans with sporadic dementia with Lewy bodies
por: Sanderson, John B, et al.
Publicado: (2020)

Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations
por: Arrant, Andrew E., et al.
Publicado: (2019)

Association of CSF Glucocerebrosidase Activity With the Risk of Incident Dementia in Patients With Parkinson Disease
por: Oftedal, Linn, et al.
Publicado: (2023)

Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency
por: Gatto, Emilia M., et al.
Publicado: (2019)

GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study
por: Rongve, Arvid, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_bad7458vco37pipq5iq5cpdokg