Cargando…

Neuronopathic Gaucher disease: Beyond lysosomal dysfunction

Gaucher disease (GD) is an inherited disorder caused by recessive mutations in the GBA1 gene that encodes the lysosomal enzyme β-glucocerebrosidase (β-GC). β-GC hydrolyzes glucosylceramide (GluCer) into glucose and ceramide in the lysosome, and the loss of its activity leads to GluCer accumulation i...

Descripción completa

Detalles Bibliográficos
Autores principales:	Arévalo, Nohela B., Lamaizon, Cristian M., Cavieres, Viviana A., Burgos, Patricia V., Álvarez, Alejandra R., Yañez, María J., Zanlungo, Silvana
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Molecular Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9381931/ https://www.ncbi.nlm.nih.gov/pubmed/35992201 http://dx.doi.org/10.3389/fnmol.2022.934820

Ejemplares similares

Editorial: Neuronopathic lysosomal storage diseases - specific neuronal characteristics and therapeutic approaches
por: Flunkert, Stefanie, et al.
Publicado: (2022)

The definition of neuronopathic Gaucher disease
por: Schiffmann, Raphael, et al.
Publicado: (2020)

Burden of caregivers of patients with neuronopathic and non-neuronopathic Gaucher disease in Japan: A survey-based study
por: Koto, Yuta, et al.
Publicado: (2023)

A multifaceted evaluation of microgliosis and differential cellular dysregulation of mammalian target of rapamycin signaling in neuronopathic Gaucher disease
por: Zhang, Zhenting, et al.
Publicado: (2022)

Isofagomine In Vivo Effects in a Neuronopathic Gaucher Disease Mouse
por: Sun, Ying, et al.
Publicado: (2011)

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study
por: Narita, Aya, et al.
Publicado: (2016)

Identification of a Biomarker in Cerebrospinal Fluid for Neuronopathic Forms of Gaucher Disease
por: Zigdon, Hila, et al.
Publicado: (2015)

Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan
por: Koto, Yuta, et al.
Publicado: (2022)

Elevated Dkk1 Mediates Downregulation of the Canonical Wnt Pathway and Lysosomal Loss in an iPSC Model of Neuronopathic Gaucher Disease
por: Srikanth, Manasa P., et al.
Publicado: (2020)

Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease
por: Mhanni, A.A., et al.
Publicado: (2015)

Correction: Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan
por: Koto, Yuta, et al.
Publicado: (2023)

Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopathic MPS II Patients
por: Bhalla, Akhil, et al.
Publicado: (2020)

CNS-accessible Inhibitor of Glucosylceramide Synthase for Substrate Reduction Therapy of Neuronopathic Gaucher Disease
por: Marshall, John, et al.
Publicado: (2016)

Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report
por: Ceravolo, Ferdinando, et al.
Publicado: (2017)

A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative
por: Collin-Histed, Tanya, et al.
Publicado: (2023)

Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases
por: Jakóbkiewicz-Banecka, Joanna, et al.
Publicado: (2013)

Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease
por: Dai, Mei, et al.
Publicado: (2016)

Drosophila melanogaster Mutated in its GBA1b Ortholog Recapitulates Neuronopathic Gaucher Disease
por: Cabasso, Or, et al.
Publicado: (2019)

Impact of Gba2 on neuronopathic Gaucher’s disease and α-synuclein accumulation in medaka (Oryzias latipes)
por: Nakanishi, Etsuro, et al.
Publicado: (2021)

Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease
por: Donald, Aimee, et al.
Publicado: (2022)

Neuronopathic Gaucher disease models reveal defects in cell growth promoted by Hippo pathway activation
por: Messelodi, Daria, et al.
Publicado: (2023)

Viable Neuronopathic Gaucher Disease Model in Medaka (Oryzias latipes) Displays Axonal Accumulation of Alpha-Synuclein
por: Uemura, Norihito, et al.
Publicado: (2015)

Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement
por: Degnan, Andrew J., et al.
Publicado: (2019)

Innate immune response in neuronopathic forms of Gaucher disease confers resistance against viral-induced encephalitis
por: Melamed, Sharon, et al.
Publicado: (2020)

Neuroinflammation in neuronopathic Gaucher disease: Role of microglia and NK cells, biomarkers, and response to substrate reduction therapy
por: Boddupalli, Chandra Sekhar, et al.
Publicado: (2022)

A consequence of immature breathing induces persistent changes in hippocampal synaptic plasticity and behavior: a role of prooxidant state and NMDA receptor imbalance
por: Arias-Cavieres, Alejandra, et al.
Publicado: (2023)

In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy
por: Ciana, Giovanni, et al.
Publicado: (2020)

c-Abl kinase at the crossroads of healthy synaptic remodeling and synaptic dysfunction in neurodegenerative diseases
por: Gutiérrez, Daniela A., et al.
Publicado: (2022)

The emerging role of autophagic-lysosomal dysfunction in Gaucher disease and Parkinson's disease
por: Kinghorn, Kerri J., et al.
Publicado: (2017)

Systemic enzyme delivery by blood-brain barrier-penetrating SapC-DOPS nanovesicles for treatment of neuronopathic Gaucher disease
por: Sun, Ying, et al.
Publicado: (2020)

The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects
por: Kim, Yoo-Mi, et al.
Publicado: (2020)

Pharmacological Chaperones and Coenzyme Q(10) Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease
por: de la Mata, Mario, et al.
Publicado: (2015)

c-Abl Activation Linked to Autophagy-Lysosomal Dysfunction Contributes to Neurological Impairment in Niemann-Pick Type A Disease
por: Marín, Tamara, et al.
Publicado: (2022)

Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses
por: Barone, Rita, et al.
Publicado: (2018)

Chaperone Therapy for Neuronopathic Lysosomal Diseases: Competitive Inhibitors as Chemical Chaperones for Enhancement of Mutant Enzyme Activities
por: Suzuki, Yoshiyuki, et al.
Publicado: (2009)

Drug delivery for neuronopathic lysosomal storage diseases: evolving roles of the blood brain barrier and cerebrospinal fluid
por: Sato, Yuji, et al.
Publicado: (2022)

Myeloid/Microglial Driven Autologous Hematopoietic Stem Cell Gene Therapy Corrects a Neuronopathic Lysosomal Disease
por: Sergijenko, Ana, et al.
Publicado: (2013)

mTOR hyperactivity mediates lysosomal dysfunction in Gaucher's disease iPSC-neuronal cells
por: Brown, Robert A., et al.
Publicado: (2019)

Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome
por: Grant, Nathan
Publicado: (2020)

Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art
por: de Castro, María José, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_i1ov9jph7n76fe4phr26qr4he2