Cargando…

Drosophila melanogaster Mutated in its GBA1b Ortholog Recapitulates Neuronopathic Gaucher Disease

Gaucher disease (GD) results from mutations in the GBA1 gene, which encodes lysosomal glucocerebrosidase (GCase). The large number of mutations known to date in the gene lead to a heterogeneous disorder, which is divided into a non-neuronopathic, type 1 GD, and two neurological, type 2 and type 3, f...

Descripción completa

Detalles Bibliográficos
Autores principales:	Cabasso, Or, Paul, Sumit, Dorot, Orly, Maor, Gali, Krivoruk, Olga, Pasmanik-Chor, Metsada, Mirzaian, Mina, Ferraz, Maria, Aerts, Johannes, Horowitz, Mia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6780790/ https://www.ncbi.nlm.nih.gov/pubmed/31505865 http://dx.doi.org/10.3390/jcm8091420

Ejemplares similares

The Uncovered Function of the Drosophila GBA1a-Encoded Protein
por: Cabasso, Or, et al.
Publicado: (2021)

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

The definition of neuronopathic Gaucher disease
por: Schiffmann, Raphael, 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)

Neuronopathic Gaucher disease: Beyond lysosomal dysfunction
por: Arévalo, Nohela B., et al.
Publicado: (2022)

Animal Models for the Study of Gaucher Disease
por: Cabasso, Or, et al.
Publicado: (2023)

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)

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)

Continuous Inflammatory Stimulation Leads via Metabolic Plasticity to a Prometastatic Phenotype in Triple-Negative Breast Cancer Cells
por: Morein, Dina, et al.
Publicado: (2021)

Kynurenic acid, a key L-tryptophan-derived metabolite, protects the heart from an ischemic damage
por: Bigelman, Einat, et al.
Publicado: (2023)

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)

GBA1 variants in Brazilian Gaucher disease patients
por: Basgalupp, Suelen Porto, et al.
Publicado: (2023)

Unfolded protein response in Gaucher disease: from human to Drosophila
por: Maor, Gali, et al.
Publicado: (2013)

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)

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

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)

Analysis of glucocerebrosidase (GBA) gene mutations in Iranian patients with Gaucher disease
por: MOZAFARI, Hadi, et al.
Publicado: (2021)

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)

Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients
por: Phetthong, Tim, et al.
Publicado: (2021)

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)

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)

Identification of novel mutations in glucocerebrosidase (GBA) gene in Indian patients with gaucher disease (GD)
por: Ankleshwaria, Chitra, et al.
Publicado: (2014)

GBA, Gaucher Disease, and Parkinson’s Disease: From Genetic to Clinic to New Therapeutic Approaches
por: Riboldi, Giulietta M., et al.
Publicado: (2019)

Small Molecule Chaperones for the Treatment of Gaucher Disease and GBA1-Associated Parkinson Disease
por: Han, Tae-Un, et al.
Publicado: (2020)

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene
por: Liu, Qi, et al.
Publicado: (2023)

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

Hierarchical Partitioning of Metazoan Protein Conservation Profiles Provides New Functional Insights
por: Witztum, Jonathan, et al.
Publicado: (2014)

Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients
por: Smid, Bouwien E., et al.
Publicado: (2016)

A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease
por: Malekkou, Anna, et al.
Publicado: (2020)

Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1
por: d'Avila Paskulin, Livia, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_82klkfndpvdhkpltrc5416ha17