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of 10 278
pro vyhledávání: ''
Autor:
Jiarui Wang, Xianqin Zhang, Tingting Zou, Dazhi Zhang, Wenqiang Liu, Zhenxing Liu, Xuejie Peng, Zhengyi Ni, Yang Tan, Meiqi Hou, Mi Zhou, Chao Yuan, Xiaopei Zhou
Publikováno v:
Biochemical and Biophysical Research Communications. 591:124-129
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare monogenetic disease, which is characterized by susceptibility to some weakly virulent mycobacteria. Here, we explored the pathogenic genes and molecular mechanisms of MSMD patients. W
Autor:
David A. Ostrov, Glenn W. Knox
Publikováno v:
Biochemical and Biophysical Research Communications
There is an urgent need to understand the functional effects of mutations in emerging variants of SARS-CoV-2. Variants of concern (alpha, beta, gamma and delta) acquired four patterns of spike glycoprotein mutations that enhance transmissibility and
Autor:
Takatoshi Hikida, Hiroshi Shiraishi, Minoru Fujiki, Takashi Kobayashi, Hiroyuki Fujinami, Ikuko Morisaki, Josef M. Penninger, Toshikatsu Hanada, Reiko Hanada, Nobuyuki Shimizu, Yuji Arai
Publikováno v:
Biochemical and Biophysical Research Communications. 570:60-66
Cleavage factor polyribonucleotide kinase subunit 1 (CLP1), an RNA kinase, plays essential roles in protein complexes involved in the 3'-end formation and polyadenylation of mRNA and the tRNA splicing endonuclease complex, which is involved in precur
Publikováno v:
NeuroReport. 32:949-956
Auditory neuropathy is sensorineural deafness where sound signals cannot be transmitted synchronously from the cochlea to the auditory center. Abnormal expression of vesicle glutamate transporter 3 (VGluT3) encoded by the SLC17a8 gene is associated w
Publikováno v:
Biochem J
Growth differentiation factor 8 (GDF8), a.k.a. myostatin, is a member of the larger TGFβ superfamily of signaling ligands. GDF8 has been well characterized as a negative regulator of muscle mass. After synthesis, GDF8 is held latent by a noncovalent
Autor:
Aditya K. Padhi, Timir Tripathi
Publikováno v:
Biochemical and Biophysical Research Communications
Several existing drugs are currently being tested worldwide to treat COVID-19 patients. Recent data indicate that SARS-CoV-2 is rapidly evolving into more transmissible variants. It is therefore highly possible that SARS-CoV-2 can accumulate adaptive
Autor:
Yiyun Chen, Ran Huo, Zihan Yan, Jizong Zhao, Hao Li, Jiguang Wang, Qiuxia Zhou, Weilun Fu, Yingxi Yang, Jiancong Weng, Yoonhee Nam, Jie Li, Hongyuan Xu, Dong Song, Shuo Wang, Lin Di, Jie Wang, Yong Cao, Yuming Jiao
Publikováno v:
American Journal of Human Genetics
Summary Cerebral cavernous malformations (CCMs) are vascular disorders that affect up to 0.5% of the total population. About 20% of CCMs are inherited because of familial mutations in CCM genes, including CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10, wh
Autor:
Liangxue Lai, Jinfu Lin, Shixue Gou, Xiaoping Li, Yaqin Li, Hui Shi, Cheng Zhang, Anding Xu, Lei Li, Liang Wang, Huan Li, Wenjing Guo, Xiaoyu Yang, Xiaomin Wang, Qin Jin, Zhiwu Jiang, Menglong Chen, Huili Zhang, Yuling Zhu, Han Wu
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Genome Medicine
Genome Medicine
Background Mutations in the DMD gene encoding dystrophin—a critical structural element in muscle cells—cause Duchenne muscular dystrophy (DMD), which is the most common fatal genetic disease. Clustered regularly interspaced short palindromic repe
Autor:
Alain Dautant, Déborah Tribouillard-Tanvier, Roza Kucharczyk, David M. Mueller, Nahia Ezkurdia, Marine Bouhier, Malgorzata Rak, Xin Su, Jean-Paul di Rago, Maïlis Bietenhader, François Godard
Publikováno v:
Hum Mol Genet
The human ATP synthase is an assembly of 29 subunits of 18 different types, of which only two (a and 8) are encoded in the mitochondrial genome. Subunit a, together with an oligomeric ring of c-subunit (c-ring), forms the proton pathway responsible f
Autor:
Roy Jung, Seung Kwak, Jonathan Picker, Tammy Gillis, Diane Lucente, Douglas Barker, Baehyun Shin, David Howland, Ramee Lee, James F. Gusella, Lance H. Rodan, Marcy E. MacDonald, Yejin Lee, Jong-Min Lee, Jayla Ruliera, Jacob M. Loupe, Ihn Sik Seong, Jayalakshmi S. Mysore, Kevin Correia, Ryan L. Collins
Publikováno v:
Hum Mol Genet
Huntington’s disease pathogenesis involves a genetic gain-of-function toxicity mechanism triggered by the expanded HTT CAG repeat. Current therapeutic efforts aim to suppress expression of total or mutant huntingtin, though the relationship of hunt