Cargando…

Downstream Effects of Mutations in SOD1 and TARDBP Converge on Gene Expression Impairment in Patient-Derived Motor Neurons

Amyotrophic Lateral Sclerosis (ALS) is a progressive and fatal neurodegenerative disease marked by death of motor neurons (MNs) present in the spinal cord, brain stem and motor cortex. Despite extensive research, the reason for neurodegeneration is still not understood. To generate novel hypotheses...

Descripción completa

Detalles Bibliográficos
Autores principales:	Dash, Banaja P., Freischmidt, Axel, Weishaupt, Jochen H., Hermann, Andreas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9456253/ https://www.ncbi.nlm.nih.gov/pubmed/36077049 http://dx.doi.org/10.3390/ijms23179652

Ejemplares similares

Reduced PHOX2B stability causes axonal growth impairment in motor neurons with TARDBP mutations
por: Mitsuzawa, Shio, et al.
Publicado: (2021)

Profiling morphologic MRI features of motor neuron disease caused by TARDBP mutations
por: Spinelli, Edoardo Gioele, et al.
Publicado: (2022)

De novo mutations in SOD1 are a cause of ALS
por: Müller, Kathrin, et al.
Publicado: (2022)

FUS and TARDBP but Not SOD1 Interact in Genetic Models of Amyotrophic Lateral Sclerosis
por: Kabashi, Edor, et al.
Publicado: (2011)

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia
por: Quadri, Marialuisa, et al.
Publicado: (2011)

Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD
por: Dafinca, Ruxandra, et al.
Publicado: (2020)

Tardbpl splicing rescues motor neuron and axonal development in a mutant tardbp zebrafish
por: Hewamadduma, Channa A.A., et al.
Publicado: (2013)

α-synuclein interacts with SOD1 and promotes its oligomerization
por: Helferich, Anika M., et al.
Publicado: (2015)

HDAC6 inhibition restores TDP‐43 pathology and axonal transport defects in human motor neurons with TARDBP mutations
por: Fazal, Raheem, et al.
Publicado: (2021)

Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China
por: Hou, Lihua, et al.
Publicado: (2016)

Defining the spectrum of frontotemporal dementias associated with TARDBP mutations
por: Caroppo, Paola, et al.
Publicado: (2016)

Generation and analysis of innovative genomically humanized knockin SOD1, TARDBP (TDP-43), and FUS mouse models
por: Devoy, Anny, et al.
Publicado: (2021)

Generation and analysis of innovative genomically humanized knockin SOD1, TARDBP (TDP-43), and FUS mouse models
por: Devoy, Anny, et al.
Publicado: (2022)

Combination of novel RNA sequencing and sophisticated network modeling to reveal a common denominator in amyotrophic lateral sclerosis?
por: Dash, Banaja P., et al.
Publicado: (2023)

Commentary: Effects of ALS-associated TANK binding kinase 1 mutations on protein-protein interactions and kinase activity
por: Freischmidt, Axel, et al.
Publicado: (2020)

A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaques
por: Moreno, Fermin, et al.
Publicado: (2015)

A natural history comparison of SOD1-mutant patients with amyotrophic lateral sclerosis between Chinese and German populations
por: Tang, Lu, et al.
Publicado: (2021)

Elevated mRNA-levels of distinct mitochondrial and plasma membrane Ca(2+) transporters in individual hypoglossal motor neurons of endstage SOD1 transgenic mice
por: Mühling, Tobias, et al.
Publicado: (2014)

TARDBP mutations are not a frequent cause of ALS in Finnish patients
por: MENTULA, HANNA-KAISA, et al.
Publicado: (2012)

Increased cytoplasmic TARDBP mRNA in affected spinal motor neurons in ALS caused by abnormal autoregulation of TDP-43
por: Koyama, Akihide, et al.
Publicado: (2016)

Systemic dysregulation of TDP-43 binding microRNAs in amyotrophic lateral sclerosis
por: Freischmidt, Axel, et al.
Publicado: (2013)

Profilin 1 with the amyotrophic lateral sclerosis associated mutation T109M displays unaltered actin binding and does not affect the actin cytoskeleton
por: Freischmidt, Axel, et al.
Publicado: (2015)

Influence of Methylene Blue on Microglia-Induced Inflammation and Motor Neuron Degeneration in the SOD1(G93A) Model for ALS
por: Dibaj, Payam, et al.
Publicado: (2012)

PRO-MINE: A Bioinformatics Repository and Analytical Tool for TARDBP Mutations
por: Pinto, Sofia, et al.
Publicado: (2011)

An unregistered TARDBP mutation in a case presenting with young-onset dementia
por: Gad, Mahmoud, et al.
Publicado: (2021)

ALS associated mutant SOD1 impairs the motor neurons and astrocytes and wild type astrocyte secreted-factors reverse the impaired motor neurons
por: Thangavelu, Soundara Rajan, et al.
Publicado: (2011)

Characterization of the human TARDBP gene promoter
por: Baralle, Marco, et al.
Publicado: (2021)

Haploinsufficiency of TANK-binding kinase 1 prepones age-associated neuroinflammatory changes without causing motor neuron degeneration in aged mice
por: Bruno, Clara, et al.
Publicado: (2020)

FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees
por: Brenner, David, et al.
Publicado: (2021)

Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis
por: Rutherford, Nicola J., et al.
Publicado: (2008)

Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis
por: Xiong, Hui-Ling, et al.
Publicado: (2010)

TARDBP mutations in a cohort of Italian patients with Parkinson’s disease and atypical parkinsonisms
por: Tiloca, Cinzia, et al.
Publicado: (2022)

Genome Wide Analysis Points towards Subtype-Specific Diseases in Different Genetic Forms of Amyotrophic Lateral Sclerosis
por: Dash, Banaja P., et al.
Publicado: (2020)

Differential Motor Neuron Impairment and Axonal Regeneration in Sporadic and Familiar Amyotrophic Lateral Sclerosis with SOD-1 Mutations: Lessons from Neurophysiology
por: Bocci, Tommaso, et al.
Publicado: (2011)

An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with TARDBP Gene: A Case Report and Review of the Literature
por: Sánchez-Tejerina, Daniel, et al.
Publicado: (2022)

RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy
por: Chen, Han-Jou, et al.
Publicado: (2019)

Genetic and clinical features of Chinese sporadic amyotrophic lateral sclerosis patients with TARDBP mutations
por: Feng, Feng, et al.
Publicado: (2021)

Somatic TARDBP variants as a cause of semantic dementia
por: van Rooij, Jeroen, et al.
Publicado: (2020)

Impaired Autophagy and Defective Mitochondrial Function: Converging Paths on the Road to Motor Neuron Degeneration
por: Edens, Brittany M., et al.
Publicado: (2016)

Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review
por: Lombardi, Michele, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_6ok4bdoo66b60gnti8ugbpvpq0