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Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?
Eur J Med Genet. 2022 Mar;65(3):104427. doi: 10.1016/j.ejmg.2022.104427. Epub 2022 Jan 19.
Eur J Med Genet. 2022.
PMID: 35063693
Disease-associated variants in KIAA1109 associate with autosomal recessive Alkuraya-Kucinskas syndrome, which is typified by cerebral parenchymal underdevelopment, clubfeet, and arthrogryposis. ...These observations expand understanding of the genotype …
Disease-associated variants in KIAA1109 associate with autosomal recessive Alkuraya-Kucinskas syndrome, which is typifi …
A conserved megaprotein-based molecular bridge critical for lipid trafficking and cold resilience.
Wang C, Wang B, Pandey T, Long Y, Zhang J, Oh F, Sima J, Guo R, Liu Y, Zhang C, Mukherjee S, Bassik M, Lin W, Deng H, Vale G, McDonald JG, Shen K, Ma DK.
Wang C, et al.
Nat Commun. 2022 Nov 10;13(1):6805. doi: 10.1038/s41467-022-34450-y.
Nat Commun. 2022.
PMID: 36357390
Free PMC article.
LPD-3 bridges the endoplasmic reticulum (ER) and plasma membranes (PM), forming a structurally predicted hydrophobic tunnel for lipid trafficking. lpd-3 mutants exhibit abnormal phospholipid distribution, diminished FAT-7 abundance, organismic vulnerability to cold, and ar …
LPD-3 bridges the endoplasmic reticulum (ER) and plasma membranes (PM), forming a structurally predicted hydrophobic tunnel for lipid …
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