Most known pathogenic mutations occur in protein-coding regions of DNA and change the way proteins are made. Taking protein structure into account has therefore provided great insight into the molecular mechanisms underlying human genetic disease. While
VEPs can provide useful information on the likelihood of mutations being pathogenic, but most tell us nothing about the molecular mechanisms underlying disease. For this, consideration of the protein structural context of mutations can be very informative. In particular, protein stability predictors, wh...
Intraventricular infusions of an ABHD6 inhibitor also restrain appetite and promote weight loss. Together, these results reveal functional specificity of pre- and post-synaptic mesoaccumbens neuronal ABHD6 to differentially control energy balance and propose ABHD6 inhibition as a potential anti-obesity...
Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation and can be valuable indicators of gene function and the potential toxicity of therapeutic inhibit
22, 23 The M1R−/− mice showed an age-dependent impairment in cognitive function. At the age of 9 months, M1R−/− and nTg mice demonstrated similar behavioral performance in the water maze, novel object recognition, social recognition, and contextual fear conditioning (see Supplemental...
phase 1 trial,14 because interest remains in developing PPARγ-modulating drugs27 for specific settings,23 and because the impact of TZD-class drugs on the development of mammary cancer initiated by loss of function of the genetic risk factor breast cancer 1, early onset (Brca1) was not ...
The TG-interacting factor 1 (TGIF1) gene, which encodes a nuclear transcriptional corepressor of the TGFβ1/Smad signaling pathway, has been implicated in the pathogenesis of various types of human cancer; however, its role in pancreatic ductal adenocarc
Autosomal dominant adult-onset neuronal ceroid lipofuscinosis (AD-ANCL) is a multisystem disease caused by mutations in theDNAJC5gene.DNAJC5encodes Cysteine String Protein-alpha (CSPα), a putative synaptic protein. AD-ANCL has been traditionally considered a lysosomal storage disease based on the in...
Continuous de novo fatty acid synthesis is required for the biosynthetic demands of tumor. FBXW7 is a highly mutated gene in CRC, but its biological functions in cancer are not fully characterized. Here, we report that FBXW7β, a FBXW7 isoform located in
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