Cargando…

Novel insights into the pathogenesis of DYT1 dystonia from induced patient-derived neurons

Detalles Bibliográficos
Autor principal:	Ding, Baojin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2021
Materias:	Perspective
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8504368/ https://www.ncbi.nlm.nih.gov/pubmed/34380890 http://dx.doi.org/10.4103/1673-5374.320978

Ejemplares similares

DYT-TOR1A dystonia: an update on pathogenesis and treatment
por: Fan, Yuhang, et al.
Publicado: (2023)

Molecular basis of DYT1 and DYT6 primary dystonia in Indian patients
por: Giri, Subhajit, et al.
Publicado: (2014)

Diminishing evidence for torsinA-positive neuronal inclusions in DYT1 dystonia
por: Pratt, Drew, et al.
Publicado: (2016)

Deep brain stimulation for myoclonus-dystonia syndrome with double mutations in DYT1 and DYT11
por: Wang, Jia-Wei, et al.
Publicado: (2017)

DYT1 dystonia increases risk taking in humans
por: Arkadir, David, et al.
Publicado: (2016)

Missense mutations in DYT-TOR1A dystonia
por: Iqbal, Zafar, et al.
Publicado: (2019)

A role for cerebellum in the hereditary dystonia DYT1
por: Fremont, Rachel, et al.
Publicado: (2017)

Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons
por: Kutschenko, Anna, et al.
Publicado: (2021)

Naming Genes for Dystonia: DYT-z or Ditzy?
por: Mencacci, Niccolo E., et al.
Publicado: (2019)

Gait Impairment in Myoclonus–Dystonia (DYT-SGCE)
por: Haeri, Ghazal, et al.
Publicado: (2019)

Evaluation of AZD1446 as a Therapeutic in DYT1 Dystonia
por: Zimmerman, Chelsea N., et al.
Publicado: (2017)

Long-Term Efficacy of Pallidal Deep Brain Stimulation in a Patient with DYT-THAP1 (DYT-6) Dystonia from India
por: Sankhla, Charulata Savant, et al.
Publicado: (2022)

DYT‐TUBB4A (DYT4 Dystonia): Clinical Anthology of 11 Cases and Systematized Review
por: Bally, Julien F., et al.
Publicado: (2022)

The Frequency of DYT1 (GAG Deletion) Mutation in Primary Dystonia Patients from Iran
por: Hamid, Mohammad, et al.
Publicado: (2011)

Generation of gene-corrected isogenic control cell lines from a DYT1 dystonia patient iPSC line carrying a heterozygous GAG mutation in TOR1A gene
por: Akter, Masuma, et al.
Publicado: (2022)

Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment
por: Park, Joseph, et al.
Publicado: (2019)

Alpha‐Synuclein is Involved in DYT1 Dystonia Striatal Synaptic Dysfunction
por: Ponterio, Giulia, et al.
Publicado: (2022)

DYT1 Dystonia Patient-Derived Fibroblasts Have Increased Deformability and Susceptibility to Damage by Mechanical Forces
por: Gill, Navjot Kaur, et al.
Publicado: (2019)

The Effect of Globus Pallidus Interna Deep Brain Stimulation on a Dystonia Patient with the GNAL Mutation Compared to Patients with DYT1 and DYT6
por: Ahn, Jong Hyeon, et al.
Publicado: (2019)

Genetic Background Modulates the Phenotype of a Mouse Model of DYT1 Dystonia
por: Tanabe, Lauren M., et al.
Publicado: (2012)

Pre-Synaptic Release Deficits in a DYT1 Dystonia Mouse Model
por: Yokoi, Fumiaki, et al.
Publicado: (2013)

High motor variability in DYT1 dystonia is associated with impaired visuomotor adaptation
por: Sadnicka, Anna, et al.
Publicado: (2018)

Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia
por: Cheng, Fubo, et al.
Publicado: (2020)

Neuroimaging findings in DYT1 dystonia and the pathophysiological implication: A systematic review
por: Taiwo, Funmilola T., et al.
Publicado: (2023)

Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions
por: Zakirova, Zuchra, et al.
Publicado: (2018)

Generation of patient-specific motor neurons in modeling movement diseases
por: Ding, Baojin
Publicado: (2021)

Inhibition of endoplasmic reticulum stress reverses synaptic plasticity deficits in striatum of DYT1 dystonia mice
por: Cai, Huaying, et al.
Publicado: (2021)

Minimal Change in the Cytoplasmic Calcium Dynamics in Striatal GABAergic Neurons of a DYT1 Dystonia Knock-In Mouse Model
por: Iwabuchi, Sadahiro, et al.
Publicado: (2013)

Towards the classification of DYT6 dystonia mutants in the DNA-binding domain of THAP1
por: Campagne, Sébastien, et al.
Publicado: (2012)

Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions
por: Paudel, Reema, et al.
Publicado: (2014)

TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models
por: Li, Jay, et al.
Publicado: (2020)

A2A Receptor Dysregulation in Dystonia DYT1 Knock-Out Mice
por: D’Angelo, Vincenza, et al.
Publicado: (2021)

Vesicular Acetylcholine Transporter Alters Cholinergic Tone and Synaptic Plasticity in DYT1 Dystonia
por: Tassone, Annalisa, et al.
Publicado: (2021)

Optogenetic augmentation of the hypercholinergic endophenotype in DYT1 knock-in mice induced erratic hyperactive movements but not dystonia
por: Richter, Franziska, et al.
Publicado: (2019)

Reduced Expression of GABA(A) Receptor Alpha2 Subunit Is Associated With Disinhibition of DYT-THAP1 Dystonia Patient-Derived Striatal Medium Spiny Neurons
por: Staege, Selma, et al.
Publicado: (2021)

Deep brain stimulation of globus pallidus internus for DYT1 positive primary generalized dystonia
por: Miri, Shahnaz, et al.
Publicado: (2014)

Mutant Allele-Specific CRISPR Disruption in DYT1 Dystonia Fibroblasts Restores Cell Function
por: Cruz, Lilian, et al.
Publicado: (2020)

Alteration of Striatal Dopaminergic Neurotransmission in a Mouse Model of DYT11 Myoclonus-Dystonia
por: Zhang, Lin, et al.
Publicado: (2012)

Reversal of Status Dystonicus after Relocation of Pallidal Electrodes in DYT6 Generalized Dystonia
por: Oterdoom, D.L. Marinus, et al.
Publicado: (2018)

Clinicopathological Phenotype and Genetics of X-Linked Dystonia–Parkinsonism (XDP; DYT3; Lubag)
por: Kawarai, Toshitaka, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_f2lmbcteaa1njuttdjb8v7b24f