Results 31 to 40 of about 6,880,999 (291)

Mutant p53: one name, many proteins.

Genes & Development, 2012
There is now strong evidence that mutation not only abrogates p53 tumor-suppressive functions, but in some instances can also endow mutant proteins with novel activities.
William A. Freed-Pastor, C. Prives
semanticscholar   +1 more source

Cellular toxicity of mutant SOD1 protein is linked to an easily soluble, non-aggregated form in vitro

Neurobiology of Disease, 2013
Mutations in superoxide dismutase 1 (SOD1) are found in approximately 20% of patients with familial amyotrophic lateral sclerosis. The propensity of mutant SOD1 to form aggregates in pathologically affected cells (i.e. motor neurons) has implicated these
Terrell E. Brotherton, Yingjie Li, Jonathan D. Glass   +2 more
doaj   +1 more source

Characterisation of ACP5 missense mutations encoding tartrate-resistant acid phosphatase associated with spondyloenchondrodysplasia.

PLoS ONE, 2020
Biallelic mutations in ACP5, encoding tartrate-resistant acid phosphatase (TRACP), have recently been identified to cause the inherited immuno-osseous disorder, spondyloenchondrodysplasia (SPENCD).
Janani Ramesh, Latha K Parthasarathy, Anthony J Janckila, Farhana Begum, Ramya Murugan, Balakumar P S S Murthy, Rif S El-Mallakh, Ranga N Parthasarathy, Bhuvarahamurthy Venugopal   +8 more
doaj   +1 more source

Rare Neurologic Disease-Associated Mutations of AIMP1 Are Related with Inhibitory Neuronal Differentiation Which Is Reversed by Ibuprofen

Medicines, 2020
Background: Hypomyelinating leukodystrophy 3 (HLD3), previously characterized as a congenital diseases associated with oligodendrocyte myelination, is increasingly regarded as primarily affecting neuronal cells.
Yu Takeuchi, Marina Tanaka, Nanako Okura, Yasuyuki Fukui, Ko Noguchi, Yoshihiro Hayashi, Tomohiro Torii, Hiroaki Ooizumi, Katsuya Ohbuchi, Kazushige Mizoguchi, Yuki Miyamoto, Junji Yamauchi   +11 more
doaj   +1 more source

The emerging role of hepatitis B virus Pre-S2 deletion mutant proteins in HBV tumorigenesis

Journal of Biomedical Sciences, 2014
Chronic hepatitis B virus (HBV) infection can cause hepatocellular carcinoma (HCC). Several hypotheses have been proposed to explain the mechanisms of HBV tumorigenesis, including inflammation and liver regeneration associated with cytotoxic immune ...
I. Su, L. Wang, W. Hsieh, Han Wu, C. Teng, H. Tsai, Wenya Huang   +6 more
semanticscholar   +1 more source

Proteomic Analysis of the GacA Response Regulator in Pseudomonas chlororaphis O6

Research in Plant Disease, 2018
The GacS/GacA system in the root colonizer Pseudomonas chlororaphis O6 is a key regulatory system of many traits relevant to the plant probiotic nature of this bacterium.
Anne J. Anderson, Young Cheol Kim
doaj   +1 more source

SUMO3 modification accelerates the aggregation of ALS-linked SOD1 mutants. [PDF]

PLoS ONE, 2014
Mutations in superoxide dismutase 1 (SOD1) are a major cause of familial amyotrophic lateral sclerosis (ALS), whereby the mutant proteins misfold and aggregate to form intracellular inclusions.
Takako Niikura, Yoshiko Kita, Yoichiro Abe   +2 more
doaj   +1 more source

Evaluation of LipL32 and LigA/LigB Knockdown Mutants in Leptospira interrogans Serovar Copenhageni: Impacts to Proteome and Virulence

Frontiers in Microbiology, 2022
Leptospirosis is a worldwide zoonosis caused by pathogenic species of the genus Leptospira. The recent application of CRISPR interference (CRISPRi) to Leptospira facilitates targeted gene silencing and provides a new tool to investigate pathogenic ...
Luis G. V. Fernandes, Luis G. V. Fernandes, Ellie J. Putz, Judith Stasko, John D. Lippolis, Ana L. T. O. Nascimento, Jarlath E. Nally   +6 more
doaj   +1 more source

Mutant p53 as a Regulator and Target of Autophagy

Frontiers in Oncology, 2021
One of the most notoriously altered genes in human cancer is the tumor-suppressor TP53, which is mutated with high frequency in more cancers than any other tumor suppressor gene.
Yong Shi, Erik Norberg, Helin Vakifahmetoglu-Norberg   +2 more
doaj   +1 more source

Charcot–Marie–Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin

Acta Neuropathologica, 2012
Charcot–Marie–Tooth type 2B (CMT2B) is a peripheral ulcero-mutilating neuropathy caused by four missense mutations in the rab7a gene. CMT2B is clinically characterized by prominent sensory loss, distal muscle weakness leading to muscle atrophy, high ...
Laura Cogli, C. Progida, Claire L. Thomas, B. Spencer‐Dene, Claudia Donno, G. Schiavo, C. Bucci   +6 more
semanticscholar   +1 more source