A frameshift mutation in a patient with Tay-Sachs disease causes premature termination and defective intracellular transport of the alpha-subunit of beta-hexosaminidase.
about
Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individualsThe molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutationThe delicate balance between secreted protein folding and endoplasmic reticulum-associated degradation in human physiologyCrucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.Molecular chaperones involved in protein degradation in the endoplasmic reticulum: quantitative interaction of the heat shock cognate protein BiP with partially folded immunoglobulin light chains that are degraded in the endoplasmic reticulumChapter 15: disease gene prioritization.Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosisIdentification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant)Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease).Role of potentially charged transmembrane residues in targeting proteins for retention and degradation within the endoplasmic reticulumProduction of recombinant beta-hexosaminidase A, a potential enzyme for replacement therapy for Tay-Sachs and Sandhoff diseases, in the methylotrophic yeast Ogataea minutaA permeabilized cell system identifies the endoplasmic reticulum as a site of protein degradation.Carboxy terminally truncated forms of ribophorin I are degraded in pre-Golgi compartments by a calcium-dependent process.Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.Fluorogenic Templated Reaction Cascades for RNA DetectionThe chondrodystrophy, nanomelia: biosynthesis and processing of the defective aggrecan precursor.
P2860
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P2860
A frameshift mutation in a patient with Tay-Sachs disease causes premature termination and defective intracellular transport of the alpha-subunit of beta-hexosaminidase.
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年学术文章
@wuu
1989年学术文章
@zh-cn
1989年学术文章
@zh-hans
1989年学术文章
@zh-my
1989年学术文章
@zh-sg
1989年學術文章
@yue
1989年學術文章
@zh
1989年學術文章
@zh-hant
name
A frameshift mutation in a pat ...... ubunit of beta-hexosaminidase.
@en
A frameshift mutation in a pat ...... ubunit of beta-hexosaminidase.
@nl
type
label
A frameshift mutation in a pat ...... ubunit of beta-hexosaminidase.
@en
A frameshift mutation in a pat ...... ubunit of beta-hexosaminidase.
@nl
prefLabel
A frameshift mutation in a pat ...... ubunit of beta-hexosaminidase.
@en
A frameshift mutation in a pat ...... ubunit of beta-hexosaminidase.
@nl
P1476
A frameshift mutation in a pat ...... ubunit of beta-hexosaminidase.
@en
P2093
P304
21376-21380
P407
P577
1989-12-01T00:00:00Z