Results 31 to 40 of about 12,015 (253)

Tracing neuropathological signatures: TARDBP and C9orf72 double mutations in a Sicilian family. [PDF]

Hum Mol Genet
Co-occurrence of double heterozygosity in TARDBP and C9ORF72 is exceedingly rare in amyotrophic lateral sclerosis. While TARDBP mutations and C9ORF72 hexanucleotide repeat expansions have each been independently implicated in disease pathogenesis, their ...
Masrori P, Tomé SO, Dedeene L, Remiche G, Van Esch H, Thal DR, Van Damme P.   +6 more
europepmc   +2 more sources

Genetics of familial amyotrophic lateral sclerosis

Бюллетень сибирской медицины, 2021
To analyze results of the studies covering modern scientific views on the genetics of familial amyotrophic lateral sclerosis (FALS).We searched for full-text publications containing the key words “amyotrophic lateral sclerosis”, “FALS”, and “genetics” in
A. V. Savinova, N. A. Shnayder, R. F. Nasyrova   +2 more
doaj   +1 more source

A partial deletion of the Tardbp 3'UTR affects TDP-43 regulation and leads to motor dysfunction in mice. [PDF]

Exp Anim
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease that causes the selective loss of motor neurons. A histopathological hallmark of ALS is the cytoplasmic aggregation of TDP-43, a ubiquitously expressed RNA-binding protein ...
Dinh TTH, Imura C, Shiokawa M, Ayabe S, Yoshiki A, Inoue H, Amano T.   +6 more
europepmc   +2 more sources

Integrated profiling of iPSC-derived motor neurons carrying C9orf72, FUS, TARDBP, or SOD1 mutations. [PDF]

Stem Cell Reports
Ma GM, Xia CC, Lyu BY, Liu J, Luo F, Guan MF, Wang JY, Sun L, Zhang L, Chen Y, Mao YW, Yu GQ, Wang WY.   +12 more
europepmc   +2 more sources

Dysfunctional Mitochondria Characterize Amyotrophic Lateral Sclerosis Patients’ Cells Carrying the p.G376D TARDBP Pathogenetic Substitution [PDF]

Antioxidants
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease caused by the degeneration of upper and lower motor neurons in the brain, brainstem and spinal cord. About 10% of familial ALS cases are linked to pathogenetic substitution in TARDBP, the
Giuseppe Petito, Victoria Stefania Del Fiore, Arianna Cuomo, Federica Cioffi, Gilda Cobellis, Antonia Lanni, Flora Guerra, Cecilia Bucci, Rosalba Senese, Roberta Romanò   +9 more
openalex   +2 more sources

TARDBP mutations in Parkinson's disease [PDF]

Parkinsonism & Related Disorders, 2013
Mutations of the TARDBP gene encoding TDP-43 protein have been shown to cause amyotrophic lateral sclerosis and have been reported to present with clinical heterogeneity including parkinsonism. In addition, TDP-43 pathology has been observed across a spectrum of neurodegenerative disorders, including Alzheimer's and Parkinson's disease.
Sruti, Rayaprolu, Shinsuke, Fujioka, Sharleen, Traynor, Alexandra I, Soto-Ortolaza, Leonard, Petrucelli, Dennis W, Dickson, Rosa, Rademakers, Kevin B, Boylan, Neill R, Graff-Radford, Ryan J, Uitti, Zbigniew K, Wszolek, Owen A, Ross   +11 more
openaire   +2 more sources

Characterisation of the pathogenic effects of the in vivo expression of an ALS-linked mutation in D-amino acid oxidase: Phenotype and loss of spinal cord motor neurons [PDF]

, 2017
Amyotrophic lateral sclerosis (ALS) is the most common adult-onset neuromuscular disorder characterised by selective loss of motor neurons leading to fatal paralysis. Current therapeutic approaches are limited in their effectiveness. Substantial advances
A Gill, A Panatier, C Watson, C Zheng, Dominic J. Wells, DS Newman, EL Tudor, ET Cirulli, FJ Martinez, G Tedeschi, GM Alexander, HJ Chen, HM Kaneb, HMJ Kaneb, I Jotova, J Hegedus, J Mitchell, J Sasabe, J Sasabe, J Vincelette, Jacqueline P. Robbins, Jacqueline S. de Belleroche, JM Lincecum, JN Matthews, John C. W. Hildyard, JP Mothet, JP Taylor, Ke Liu, L-S Wu, LJ Wang, M Azzouz, M Azzouz, M Neumann, M Sasaki, ME Gurney, MJ Piesla, Nazanin Rahmani Kondori, P Paul, P Paul, Praveen Paul, PS Sharp, R Konno, R Konno, S McHanwell, S Scott, SL Almond, TG Hampton, Thomas H. Gillingwater, Y Li, Y Yang   +49 more
core   +12 more sources

Identification of multiple TAR DNA binding protein retropseudogene lineages during the evolution of primates

Scientific Reports, 2022
The TAR DNA Binding Protein (TARDBP) gene has become relevant after the discovery of its several pathogenic mutations. The lack of evolutionary history is in contrast to the amount of studies found in the literature.
Juan C. Opazo, Kattina Zavala, Luis Vargas-Chacoff, Francisco J. Morera, Gonzalo A. Mardones   +4 more
doaj   +1 more source

Ropinirole Functions Through a Dopamine Receptor D2-Independent Mechanism to Ameliorate Amyotrophic Lateral Sclerosis Phenotypes in TARDBP-Mutant iPSC-Derived Motor Neurons. [PDF]

J Neurochem
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by motor neuron (MN) degeneration. Ropinirole hydrochloride (ROPI), a dopamine receptor D2 (DRD2) agonist, was identified through phenotypic screening of MNs ...
Asano H, Kawaguchi T, Kato C, Morimoto S, Yano M, Minaguchi M, Yasuda D, Fukushima K, Okano H.   +8 more
europepmc   +2 more sources

Genetic and clinical features of Chinese sporadic amyotrophic lateral sclerosis patients with TARDBP mutations

Brain and Behavior, 2021
Objectives To investigate the genetic and clinical features of Chinese sporadic amyotrophic lateral sclerosis (SALS) patients with TARDBP mutations, we carried out a genetic analysis in a cohort of 391 SALS patients and explored the clinical ...
Feng Feng, Hongfen Wang, Jiajin Liu, Zhanjun Wang, Baixuan Xu, Kun Zhao, Xiaoyong Tao, Zhengqing He, Fei Yang, Xusheng Huang   +9 more
doaj   +1 more source