Results 151 to 160 of about 12,015 (253)

Characterisation of novel gene mutations causing familiar amyotrophic lateral sclerosis

, 2010
Amyotrophic lateral sclerosis (ALS) is a complex fatal degenerative disease selectively affecting motor neurones. The cause of the disease is still uncharacterised for the sporadic cases (SALS), whereas several disease-linked genes, such as SOD1 and ...
Chen, Han-Jou, Chen, Han-Jou
core   +1 more source

A novel mutation in TARDBP segregates with amyotrophic lateral sclerosis in a large family with early onset and fast progression

, 2020
Orly Goldstein, Merav Kedmi, Mali Gana‐Weisz, Beatrice Nefussy, Batel Vainer, Yaara Fainmesser, Vivian E. Drory, Avi Orr‐Urtreger   +7 more
openalex   +1 more source

RNAseq sequences of the study "Transactive response DNA-binding Protein (TARDBP/TDP-43) regulates early HIV-1 entry and infection" (2/2)

, 2022
Romina Cabrera-Rodríguez, Silvia Pérez-Yanes, Rafaela González‐Montelongo, José-Miguel Lorenzo-Salazar, Judith Estévez‐Herrera, Jonay García-Luis, Antonio Íñigo-Campos, Luis A. Rubio‐Rodríguez, Adrián Muñoz‐Barrera, Rodrigo Trujillo‐González, Roberto Dorta‐Guerra, Concha Casado, María Pernas, Julià Blanco, Carlos Flores, Agustı́n Valenzuela-Fernández   +15 more
openalex   +1 more source

TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43

Neurobiology of Disease
TDP-43 pathology is found in several neurodegenerative disorders, collectively referred to as “TDP-43 proteinopathies”. Aggregates of TDP-43 are present in the brains and spinal cords of >97% of amyotrophic lateral sclerosis (ALS), and in brains of ∼50 ...
Juan M. Godoy-Corchuelo, Zeinab Ali, Jose M. Brito Armas, Aurea B. Martins-Bach, Irene García-Toledo, Luis C. Fernández-Beltrán, Juan I. López-Carbonero, Pablo Bascuñana, Shoshana Spring, Irene Jimenez-Coca, Ramón A. Muñoz de Bustillo Alfaro, Maria J. Sánchez-Barrena, Remya R. Nair, Brian J. Nieman, Jason P. Lerch, Karla L. Miller, Hande P. Ozdinler, Elizabeth M.C. Fisher, Thomas J. Cunningham, Abraham Acevedo-Arozena, Silvia Corrochano   +20 more
doaj   +1 more source

Upregulation of ATG7 attenuates motor neuron dysfunction associated with depletion of TARDBP/TDP-43

, 2020
Aneesh Donde, Mingkuan Sun, Yun Ha Jeong, Xinrui Wen, Jonathan P. Ling, Sophie Lin, Kerstin E. Braunstein, Shuke Nie, Sheng Wang, Liam Chen, Philip C. Wong   +10 more
openalex   +1 more source

Frontotemporal dementia and progressive supranuclear palsy‐like syndrome with a novel TARDBP mutation [PDF]

, 2016
Ichiro Yabe, Fumihito Nakano, Shinichi Shirai, Masaaki Matsushima, Ikuko Takahashi, Hidenao Sasaki   +5 more
openalex   +1 more source

TARDBP Gene [PDF]

, 2020
openaire   +1 more source

Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China [PDF]

, 2016
Lihua Hou, Bin Jiao, Tingting Xiao, Lu Zhou, Zhifan Zhou, Juan Du, Xinxiang Yan, Junling Wang, Beisha Tang, Lu Shen   +9 more
openalex   +1 more source

TARDBP wt Allele [PDF]

, 2020
openaire   +1 more source

PTK2/FAK regulates UPS impairment via SQSTM1/p62 phosphorylation in TARDBP/TDP-43 proteinopathies

, 2019
Shinrye Lee, Yu‐Mi Jeon, Sun Hyung Joo, Seyeon Kim, Younghwi Kwon, Myungjin Jo, You-Na Jang, Seongsoo Lee, Jaekwang Kim, Sang Ryong Kim, Kea Joo Lee, Sung Bae Lee, Kiyoung Kim, Hyungjun Kim   +13 more
openalex   +1 more source