Disrupted ER membrane protein complex–mediated topogenesis drives congenital neural crest defects
نویسندگان
چکیده
منابع مشابه
Two translocating hydrophilic segments of a nascent chain span the ER membrane during multispanning protein topogenesis
During protein integration into the endoplasmic reticulum, the N-terminal domain preceding the type I signal-anchor sequence is translocated through a translocon. By fusing a streptavidin-binding peptide tag to the N terminus, we created integration intermediates of multispanning membrane proteins. In a cell-free system, N-terminal domain (N-domain) translocation was arrested by streptavidin an...
متن کاملIntracellular protein topogenesis.
Concurrently with or shortly after their synthesis on ribosomes, numerous specific proteins are unidirectionally translocated across or asymmetrically integrated into distinct cellular membranes. Thereafter, subpopulations of these proteins need to be sorted from each other and routed for export or targeted to other intracellular membranes or compartments. It is hypothesized here that the infor...
متن کاملLoss of microRNAs in neural crest leads to cardiovascular syndromes resembling human congenital heart defects.
OBJECTIVE Congenital heart defects represent the most common human birth defects. Even though the genetic cause of these syndromes has been linked to candidate genes, the underlying molecular mechanisms are still largely unknown. Disturbance of neural crest cell (NCC) migration into the derivatives of the pharyngeal arches and pouches can account for many of the developmental defects. The goal ...
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concanavalin A-binding proteins are relatively unaffected by the changes in glucose concentration. At this threshold level of glucose the glucose-regulated proteins of Shui et al. (1977) are not apparent. The reappearance of the 100000-mol.wt. glycoprotein can be correlated with the reappearance of the 95 000-mol.wt. glucosamine-labelled glycoprotein (Fig. 2) and there seems, therefore, good re...
متن کاملA neural crest origin for cohesinopathy heart defects.
Mutations in subunits or regulators of cohesin cause a spectrum of disorders in humans known as the 'cohesinopathies'. Cohesinopathies, including the best known example Cornelia de Lange syndrome (CdLS), are characterized by broad spectrum, multifactorial developmental anomalies. Heart defects occur at high frequency and can reach up to 30% in CdLS. The mechanisms by which heart defects occur a...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2020
ISSN: 0021-9738,1558-8238
DOI: 10.1172/jci129308