Disease‐causing missense mutations within the N‐terminal transmembrane domain of GlcNAc‐1‐phosphotransferase impair endoplasmic reticulum translocation or Golgi retention
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DOI: 10.1002/humu.24019
Abstract: Transport of newly synthesized lysosomal enzymes to the lysosome requires tagging of these enzymes with the mannose 6‐phosphate moiety by UDP‐GlcNAc:lysosomal enzyme N‐acetylglucosamine‐1‐phosphotransferase (GlcNAc‐1‐phosphotransferase), encoded by two genes, GNPTAB and GNPTG. GNPTAB encodes the α… read more here.
Keywords: phosphotransferase; mutations within; terminal transmembrane; golgi ... See more keywords
Multiple mutations within individual oncogenes
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DOI: 10.1111/cas.14699
Abstract: Recent studies of the cancer genome have identified numerous patients harboring multiple mutations (MM) within individual oncogenes. These MM (de novo MM) in cis synergistically activate the mutated oncogene and promote tumorigenesis, indicating a positive… read more here.
Keywords: mutations within; evolution; multiple mutations; cancer ... See more keywords
Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poor prognosis: A review of POIKTMP cases
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DOI: 10.1111/exd.14537
Abstract: Mutations in the human FAM111B gene are associated with a rare, hereditary multi‐systemic fibrosing disease, POIKTMP. To date, there are ten POIKTMP‐associated FAM111B gene mutations reported in thirty‐six patients from five families globally. To investigate… read more here.
Keywords: mutations within; poiktmp; fam111b gene; protease domain ... See more keywords
Cefotaxime Exposure Selects Mutations within the CA-Domain of envZ Which Promote Antibiotic Resistance but Repress Biofilm Formation in Salmonella
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DOI: 10.1128/spectrum.02145-21
Abstract: Understanding mechanisms of antibiotic resistance is crucial to guide how best to use antibiotics to minimize emergence of resistance. We used a laboratory evolution system to study how Salmonella responds to cefotaxime in both planktonic… read more here.
Keywords: mutations within; antibiotic resistance; salmonella; biofilm ... See more keywords
Binding and Dynamics Demonstrate the Destabilization of Ligand Binding for the S688Y Mutation in the NMDA Receptor GluN1 Subunit
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DOI: 10.3390/molecules28104108
Abstract: Encephalopathies are brain dysfunctions that lead to cognitive, sensory, and motor development impairments. Recently, the identification of several mutations within the N-methyl-D-aspartate receptor (NMDAR) have been identified as significant in the etiology of this group… read more here.
Keywords: mutations within; ligand binding; ligand; mutation ... See more keywords