Cargando…

Acid ceramidase involved in pathogenic cascade leading to accumulation of α-synuclein in iPSC model of GBA1-associated Parkinson’s disease

Bi-allelic mutations in GBA1, the gene that encodes β-glucocerebrosidase (GCase), cause Gaucher disease (GD), whereas mono-allelic mutations do not cause overt pathology. Yet mono- or bi-allelic GBA1 mutations are the highest known risk factor for Parkinson’s disease (PD). GCase deficiency results i...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kumar, Manoj, Srikanth, Manasa P, Deleidi, Michela, Hallett, Penelope J, Isacson, Ole, Feldman, Ricardo A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2023
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10196677/ https://www.ncbi.nlm.nih.gov/pubmed/36752535 http://dx.doi.org/10.1093/hmg/ddad025

Ejemplares similares

ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons
por: Fernandes, Hugo J.R., et al.
Publicado: (2016)

α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism
por: Yun, Seung Pil, et al.
Publicado: (2018)

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)

Deregulation of mTORC1-TFEB axis in human iPSC model of GBA1-associated Parkinson’s disease
por: Mubariz, Fahad, et al.
Publicado: (2023)

SNCA Triplication Parkinson's Patient's iPSC-derived DA Neurons Accumulate α-Synuclein and Are Susceptible to Oxidative Stress
por: Byers, Blake, et al.
Publicado: (2011)

Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson’s Disease
por: Grigor’eva, Elena V., et al.
Publicado: (2023)

Loss of Lipid Carrier ApoE Exacerbates Brain Glial and Inflammatory Responses after Lysosomal GBA1 Inhibition
por: Connolly, Kyle J., et al.
Publicado: (2023)

Excess α-synuclein compromises phagocytosis in iPSC-derived macrophages
por: Haenseler, Walther, et al.
Publicado: (2017)

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

Enhanced ubiquitin-dependent degradation by Nedd4 protects against α-synuclein accumulation and toxicity in animal models of Parkinson's disease
por: Davies, Sian E., et al.
Publicado: (2014)

Lipid-dependent deposition of alpha-synuclein and Tau on neuronal Secretogranin II-positive vesicular membranes with age
por: Brekk, Oeystein R., et al.
Publicado: (2018)

Cellular α-synuclein pathology is associated with bioenergetic dysfunction in Parkinson’s iPSC-derived dopamine neurons
por: Zambon, Federico, 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)

Parkin and PINK1 Patient iPSC-Derived Midbrain Dopamine Neurons Exhibit Mitochondrial Dysfunction and α-Synuclein Accumulation
por: Chung, Sun Young, et al.
Publicado: (2016)

No evidence for substrate accumulation in Parkinson brains with GBA mutations
por: Gegg, Matthew E., et al.
Publicado: (2015)

Altered Differentiation Potential of Gaucher’s Disease iPSC Neuronal Progenitors due to Wnt/β-Catenin Downregulation
por: Awad, Ola, et al.
Publicado: (2017)

Neurite Collapse and Altered ER Ca(2+) Control in Human Parkinson Disease Patient iPSC-Derived Neurons with LRRK2 G2019S Mutation
por: Korecka, Joanna A., et al.
Publicado: (2018)

Detection of pathological alpha-synuclein aggregates in human iPSC-derived neurons and tissue
por: Stojkovska, Iva, et al.
Publicado: (2021)

LRRK2 Kinase Inhibition Rescues Deficits in Lysosome Function Due to Heterozygous GBA1 Expression in Human iPSC-Derived Neurons
por: Sanyal, Anwesha, et al.
Publicado: (2020)

Mitochondrial dysfunction associated with increased oxidative stress and α-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissue
por: Imaizumi, Yoichi, et al.
Publicado: (2012)

Cross-talks among GBA mutations, glucocerebrosidase, and α-synuclein in GBA-associated Parkinson’s disease and their targeted therapeutic approaches: a comprehensive review
por: Behl, Tapan, et al.
Publicado: (2021)

Ambroxol reverses tau and α-synuclein accumulation in a cholinergic N370S GBA1 mutation model
por: Yang, Shi Yu, et al.
Publicado: (2022)

The Role of Cholesterol in α‐Synuclein and Lewy Body Pathology in GBA1 Parkinson's Disease
por: García‐Sanz, Patricia, et al.
Publicado: (2020)

Protein Clearance Mechanisms of Alpha-Synuclein and Amyloid-Beta in Lewy Body Disorders
por: Deleidi, Michela, et al.
Publicado: (2012)

α-Synuclein oligomers induce early axonal dysfunction in human iPSC-based models of synucleinopathies
por: Prots, Iryna, et al.
Publicado: (2018)

Lipid and immune abnormalities causing age-dependent neurodegeneration and Parkinson’s disease
por: Hallett, Penelope J., et al.
Publicado: (2019)

The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines
por: Smith, Laura J, et al.
Publicado: (2022)

GBA-Associated Synucleinopathies: Prime Candidates for Alpha-Synuclein Targeting Compounds
por: Brockmann, Kathrin
Publicado: (2020)

Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson’s disease
por: Huebecker, Mylene, et al.
Publicado: (2019)

Apolipoprotein E regulates lipid metabolism and α-synuclein pathology in human iPSC-derived cerebral organoids
por: Zhao, Jing, et al.
Publicado: (2021)

Sphingolipid changes in Parkinson L444P GBA mutation fibroblasts promote α-synuclein aggregation
por: Galvagnion, Céline, et al.
Publicado: (2022)

Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy
por: Monzio Compagnoni, Giacomo, et al.
Publicado: (2018)

Correction to: Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson’s disease
por: Huebecker, Mylene, et al.
Publicado: (2020)

Banking on iPSC- Is it Doable and is it Worthwhile
por: Solomon, Susan, et al.
Publicado: (2014)

Roadblocks in the Path of iPSC to the Clinic
por: Garreta, Elena, et al.
Publicado: (2018)

iPSC Bioprinting: Where are We at?
por: Romanazzo, Sara, et al.
Publicado: (2019)

Maturing iPSC-Derived Cardiomyocytes
por: Tang, Bor Luen
Publicado: (2020)

iPSC for modeling neurodegenerative disorders
por: Valadez-Barba, Valeria, et al.
Publicado: (2020)

Oct4-Induced Reprogramming Is Required for Adult Brain Neural Stem Cell Differentiation into Midbrain Dopaminergic Neurons
por: Deleidi, Michela, et al.
Publicado: (2011)

The Consequences of GBA Deficiency in the Autophagy–Lysosome System in Parkinson’s Disease Associated with GBA
por: Pradas, Eddie, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_t5l9rj769ogblj854h913q0826