Cargando…

An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington’s disease patient neurons

Huntington’s disease (HD) is a neurodegenerative disorder caused by poly-Q expansion in the Huntingtin (HTT) protein. Here, we delineate elevated mutant HTT (mHTT) levels in patient-derived cells including fibroblasts and iPSC derived cortical neurons using mesoscale discovery (MSD) HTT assays. HD p...

Descripción completa

Detalles Bibliográficos
Autores principales:	Krach, Florian, Stemick, Judith, Boerstler, Tom, Weiss, Alexander, Lingos, Ioannis, Reischl, Stephanie, Meixner, Holger, Ploetz, Sonja, Farrell, Michaela, Hehr, Ute, Kohl, Zacharias, Winner, Beate, Winkler, Juergen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9649613/ https://www.ncbi.nlm.nih.gov/pubmed/36357392 http://dx.doi.org/10.1038/s41467-022-34419-x

Ejemplares similares

Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis
por: Krach, Florian, et al.
Publicado: (2022)

Intracellular A53T Mutant α-Synuclein Impairs Adult Hippocampal Newborn Neuron Integration
por: Regensburger, Martin, et al.
Publicado: (2020)

Impaired adult olfactory bulb neurogenesis in the R6/2 mouse model of Huntington's disease
por: Kohl, Zacharias, et al.
Publicado: (2010)

The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington’s disease patients
por: Neueder, Andreas, et al.
Publicado: (2017)

HTT haplogroups in Finnish patients with Huntington disease
por: Ylönen, Susanna, et al.
Publicado: (2019)

Huntingtin Lowering Strategies
por: Marxreiter, Franz, et al.
Publicado: (2020)

Parkinsonism with a Hint of Huntington’s from 29 CAG Repeats in HTT
por: JOT, Sipilä
Publicado: (2019)

Huntington’s Disease—An Outlook on the Interplay of the HTT Protein, Microtubules and Actin Cytoskeletal Components
por: Taran, Aleksandra S., et al.
Publicado: (2020)

In silico designing of putative peptides for targeting pathological protein Htt in Huntington's disease
por: Kohli, Harleen, et al.
Publicado: (2021)

A novel and accurate full-length HTT mouse model for Huntington’s disease
por: Shenoy, Sushila A, et al.
Publicado: (2022)

Alternative processing of human HTT mRNA with implications for Huntington’s disease therapeutics
por: Fienko, Sandra, et al.
Publicado: (2022)

Functional Characterisation of the Circular RNA, circHTT(2-6), in Huntington’s Disease
por: Gantley, Laura, et al.
Publicado: (2023)

Small molecule splicing modifiers with systemic HTT-lowering activity
por: Bhattacharyya, Anuradha, et al.
Publicado: (2021)

FAN1 modifies Huntington’s disease progression by stabilizing the expanded HTT CAG repeat
por: Goold, Robert, et al.
Publicado: (2019)

Targeting Gpr52 lowers mutant HTT levels and rescues Huntington’s disease-associated phenotypes
por: Song, Haikun, et al.
Publicado: (2018)

Integrated analysis on transcriptome and behaviors defines HTT repeat-dependent network modules in Huntington's disease
por: Huang, Lulin, et al.
Publicado: (2021)

Intrastriatal Administration of AAV5-miHTT in Non-Human Primates and Rats Is Well Tolerated and Results in miHTT Transgene Expression in Key Areas of Huntington Disease Pathology
por: Spronck, Elisabeth A., et al.
Publicado: (2021)

Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range
por: Findlay Black, Hailey, et al.
Publicado: (2020)

Developmental Trajectory of Height, Weight, and BMI in Children and Adolescents at Risk for Huntington’s Disease: Effect of mHTT on Growth
por: Tereshchenko, Alexander, et al.
Publicado: (2020)

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients’ neurons
por: Havlicek, Steven, et al.
Publicado: (2014)

Htt(Q111/+) Huntington’s Disease Knock-in Mice Exhibit Brain Region-Specific Morphological Changes and Synaptic Dysfunction
por: Kovalenko, Marina, et al.
Publicado: (2018)

Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease
por: Ruiz de Sabando, Ainara, et al.
Publicado: (2022)

Distinct Effects of Chronic Dopaminergic Stimulation on Hippocampal Neurogenesis and Striatal Doublecortin Expression in Adult Mice
por: Salvi, Rachele, et al.
Publicado: (2016)

Identification of a HTT-specific binding motif in DNAJB1 essential for suppression and disaggregation of HTT
por: Ayala Mariscal, S. M., et al.
Publicado: (2022)

AAV5-miHTT Gene Therapy Demonstrates Sustained Huntingtin Lowering and Functional Improvement in Huntington Disease Mouse Models
por: Spronck, Elisabeth A., et al.
Publicado: (2019)

Excess Rab4 rescues synaptic and behavioral dysfunction caused by defective HTT-Rab4 axonal transport in Huntington’s disease
por: White, Joseph A., et al.
Publicado: (2020)

Evidence of Extensive Alternative Splicing in Post Mortem Human Brain HTT Transcription by mRNA Sequencing
por: Labadorf, Adam T., et al.
Publicado: (2015)

HTT-DB: new features and updates
por: Dotto, Bruno Reis, et al.
Publicado: (2018)

Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.Htt(Q111/+) model of Huntington’s disease
por: Bragg, Robert M., et al.
Publicado: (2017)

Peripheral huntingtin silencing does not ameliorate central signs of disease in the B6.Htt(Q111/+) mouse model of Huntington’s disease
por: Coffey, Sydney R., et al.
Publicado: (2017)

Robust Preimplantation Genetic Testing of Huntington Disease by Combined Triplet-Primed PCR Analysis of the HTT CAG Repeat and Multi-Microsatellite Haplotyping
por: Zhao, Mingjue, et al.
Publicado: (2019)

Gait variability as digital biomarker of disease severity in Huntington’s disease
por: Gaßner, Heiko, et al.
Publicado: (2020)

Correction to: Gait variability as digital biomarker of disease severity in Huntington’s disease
por: Gaßner, Heiko, et al.
Publicado: (2020)

Characterization of HTT Inclusion Size, Location, and Timing in the zQ175 Mouse Model of Huntington´s Disease: An In Vivo High-Content Imaging Study
por: Carty, Nikisha, et al.
Publicado: (2015)

Comparison of mHTT Antibodies in Huntington’s Disease Mouse Models Reveal Specific Binding Profiles and Steady-State Ubiquitin Levels with Disease Development
por: Bayram-Weston, Zubeyde, et al.
Publicado: (2016)

AAV5-miHTT gene therapy demonstrates suppression of mutant huntingtin aggregation and neuronal dysfunction in a rat model of Huntington’s disease
por: Miniarikova, J, et al.
Publicado: (2017)

Corrigendum: Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.Htt(Q111/+) model of Huntington’s disease
por: Bragg, Robert M., et al.
Publicado: (2017)

Investigation of intermediate CAG alleles of the HTT in the general population of Rio de Janeiro, Brazil, in comparison with a sample of Huntington disease‐affected families
por: Apolinário, Thays A., et al.
Publicado: (2020)

Axon-Specific Mitochondrial Pathology in SPG11 Alpha Motor Neurons
por: Güner, Fabian, et al.
Publicado: (2021)

The hnRNP-Htt axis regulates necrotic cell death induced by transcriptional repression through impaired RNA splicing
por: Mao, Y, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_gdhiuvb4cp8mhmpu52mduutp6c