Cargando…

Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency

In the last years, lysosomal storage diseases appear as a bridge of knowledge between rare genetic inborn metabolic disorders and neurodegenerative diseases such as Parkinson’s disease (PD) or frontotemporal dementia. Epidemiological studies helped promote research in the field that continues to imp...

Descripción completa

Detalles Bibliográficos
Autores principales:	Gatto, Emilia M., Da Prat, Gustavo, Etcheverry, Jose Luis, Drelichman, Guillermo, Cesarini, Martin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2019
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6406566/ https://www.ncbi.nlm.nih.gov/pubmed/30717266 http://dx.doi.org/10.3390/brainsci9020030

Ejemplares similares

Glucocerebrosidase Deficiency in Substantia Nigra of Parkinson Disease Brains
por: Gegg, Matthew E, et al.
Publicado: (2012)

Mitochondrial dysfunction associated with glucocerebrosidase deficiency
por: Gegg, Matthew E., et al.
Publicado: (2016)

Progranulin deficiency leads to reduced glucocerebrosidase activity
por: Zhou, Xiaolai, et al.
Publicado: (2019)

Consequences of excessive glucosylsphingosine in glucocerebrosidase-deficient zebrafish.
por: Lelieveld, Lindsey T., et al.
Publicado: (2022)

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

Glucocerebrosidase mutations in primary parkinsonism
por: Asselta, Rosanna, et al.
Publicado: (2014)

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

Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease
por: Magalhaes, Joana, et al.
Publicado: (2016)

Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency
por: Keatinge, Marcus, et al.
Publicado: (2023)

Glucocerebrosidase and its relevance to Parkinson disease
por: Do, Jenny, et al.
Publicado: (2019)

Glucocerebrosidase Involvement in Parkinson Disease and Other Synucleinopathies
por: Almeida, Maria do Rosário
Publicado: (2012)

Progressive decline of glucocerebrosidase in aging and Parkinson's disease
por: Rocha, Emily M, et al.
Publicado: (2015)

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

Longitudinal Measurements of Glucocerebrosidase activity in Parkinson’s patients
por: Alcalay, Roy N., et al.
Publicado: (2020)

Glucocerebrosidase deficiency promotes protein aggregation through dysregulation of extracellular vesicles
por: Thomas, Ruth E., et al.
Publicado: (2018)

SCARB2 variants and glucocerebrosidase activity in Parkinson’s disease
por: Alcalay, Roy N, et al.
Publicado: (2016)

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)

Neuroimaging in Glucocerebrosidase‐Associated Parkinsonism: A Systematic Review
por: Filippi, Massimo, et al.
Publicado: (2022)

Glucocerebrosidase Activity is not Associated with Parkinson's Disease Risk or Severity
por: Omer, Nurit, et al.
Publicado: (2021)

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

Glucocerebrosidase: Functions in and Beyond the Lysosome
por: Boer, Daphne E.C., et al.
Publicado: (2020)

Glucocerebrosidase Deficiency in Drosophila Results in α-Synuclein-Independent Protein Aggregation and Neurodegeneration
por: Davis, Marie Y., et al.
Publicado: (2016)

Glucocerebrosidase deficiency promotes release of α-synuclein fibrils from cultured neurons
por: Gegg, Matthew E, et al.
Publicado: (2020)

Did α-Synuclein and Glucocerebrosidase Coevolve? Implications for Parkinson’s Disease
por: Gruschus, James M.
Publicado: (2015)

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

Reduced glucocerebrosidase activity in monocytes from patients with Parkinson’s disease
por: Atashrazm, Farzaneh, et al.
Publicado: (2018)

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

Cytokines and Gaucher Biomarkers in Glucocerebrosidase Carriers with and Without Parkinson Disease
por: Galper, Jasmin, et al.
Publicado: (2021)

Novel pathogenic mutations in the glucocerebrosidase locus
por: Duran, Raquel, et al.
Publicado: (2012)

Stabilization of Glucocerebrosidase by Active Site Occupancy
por: Ben Bdira, Fredj, et al.
Publicado: (2017)

Neurological effects of glucocerebrosidase gene mutations
por: Mullin, S., et al.
Publicado: (2018)

Chaperoning glucocerebrosidase: a therapeutic strategy for both Gaucher disease and Parkinsonism
por: McMahon, Benjamin, et al.
Publicado: (2016)

Glucocerebrosidase modulates cognitive and motor activities in murine models of Parkinson’s disease
por: Rockenstein, Edward, et al.
Publicado: (2016)

Glucocerebrosidase activity and lipid levels are related to protein pathologies in Parkinson’s disease
por: Leyns, Cheryl E. G., et al.
Publicado: (2023)

Characterization of Novel Human β-glucocerebrosidase Antibodies for Parkinson Disease Research
por: Jong, Tiffany, et al.
Publicado: (2023)

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

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

Patients’ experiences of Parkinson’s disease: a qualitative study in glucocerebrosidase and idiopathic Parkinson’s disease
por: Bonner, N., et al.
Publicado: (2020)

Lysosomal lipid alterations caused by glucocerebrosidase deficiency promote lysosomal dysfunction, chaperone-mediated-autophagy deficiency, and alpha-synuclein pathology
por: Navarro-Romero, Alba, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_fsjgdorp6p4g8hnbtgmk9mr61m