Matches in SemOpenAlex for { <https://semopenalex.org/work/W160488422> ?p ?o ?g. }
Showing items 1 to 68 of
68
with 100 items per page.
- W160488422 abstract "Mucolipidosis IV is an autosomal recessive lysosomal storage disease characterized by progressive psychomotor retardation and opthalmological abnormalities, namely corneal opacity and retinal degeneration. Biochemically, it is characterized by the lysosomal accumulation of diverse compounds such as gangliosides, phospholipids and acidic mucopolysaccharides. To date, the basic biochemical defect causing this storage disease is still unknown and the relevant gene has also not been identified. An expression cloning strategy was used to identify human kidney cDNA clones capable of reverting in transient gene expression assays the PAS+ phenotype typical of Mucolipidosis IV cells to the normal PAS- phenotype. By this method, a candidate cDNA clone (Mu cDNA) capable of clearing Mucolipidosis IV fibroblasts of their PAS+ positive storage material was isolated. Nucleotide sequence analysis indicated the presence of 2 open reading frames. In vitro translation of T7 transcribed Mu RNA showed protein products of 7,000 and 6,000 mw. Altered expression of the Mu gene may result in the onset of Mucolipidosis type IV." @default.
- W160488422 created "2016-06-24" @default.
- W160488422 creator A5017198978 @default.
- W160488422 creator A5062896211 @default.
- W160488422 creator A5075864868 @default.
- W160488422 date "1994-09-01" @default.
- W160488422 modified "2023-09-28" @default.
- W160488422 title "Expression cloning of a candidate gene for Mucolipidosis type IV" @default.
- W160488422 hasPublicationYear "1994" @default.
- W160488422 type Work @default.
- W160488422 sameAs 160488422 @default.
- W160488422 citedByCount "0" @default.
- W160488422 crossrefType "journal-article" @default.
- W160488422 hasAuthorship W160488422A5017198978 @default.
- W160488422 hasAuthorship W160488422A5062896211 @default.
- W160488422 hasAuthorship W160488422A5075864868 @default.
- W160488422 hasConcept C104317684 @default.
- W160488422 hasConcept C127716648 @default.
- W160488422 hasConcept C150194340 @default.
- W160488422 hasConcept C153911025 @default.
- W160488422 hasConcept C181199279 @default.
- W160488422 hasConcept C187882448 @default.
- W160488422 hasConcept C2777187973 @default.
- W160488422 hasConcept C2778264360 @default.
- W160488422 hasConcept C2780905385 @default.
- W160488422 hasConcept C54355233 @default.
- W160488422 hasConcept C55493867 @default.
- W160488422 hasConcept C86803240 @default.
- W160488422 hasConceptScore W160488422C104317684 @default.
- W160488422 hasConceptScore W160488422C127716648 @default.
- W160488422 hasConceptScore W160488422C150194340 @default.
- W160488422 hasConceptScore W160488422C153911025 @default.
- W160488422 hasConceptScore W160488422C181199279 @default.
- W160488422 hasConceptScore W160488422C187882448 @default.
- W160488422 hasConceptScore W160488422C2777187973 @default.
- W160488422 hasConceptScore W160488422C2778264360 @default.
- W160488422 hasConceptScore W160488422C2780905385 @default.
- W160488422 hasConceptScore W160488422C54355233 @default.
- W160488422 hasConceptScore W160488422C55493867 @default.
- W160488422 hasConceptScore W160488422C86803240 @default.
- W160488422 hasLocation W1604884221 @default.
- W160488422 hasOpenAccess W160488422 @default.
- W160488422 hasPrimaryLocation W1604884221 @default.
- W160488422 hasRelatedWork W1602085321 @default.
- W160488422 hasRelatedWork W1987974855 @default.
- W160488422 hasRelatedWork W1996637812 @default.
- W160488422 hasRelatedWork W2000716032 @default.
- W160488422 hasRelatedWork W2002958127 @default.
- W160488422 hasRelatedWork W2003346910 @default.
- W160488422 hasRelatedWork W2006443434 @default.
- W160488422 hasRelatedWork W2009587247 @default.
- W160488422 hasRelatedWork W2012856015 @default.
- W160488422 hasRelatedWork W2040754190 @default.
- W160488422 hasRelatedWork W2041805396 @default.
- W160488422 hasRelatedWork W2067061418 @default.
- W160488422 hasRelatedWork W2068988711 @default.
- W160488422 hasRelatedWork W2083280495 @default.
- W160488422 hasRelatedWork W2104243555 @default.
- W160488422 hasRelatedWork W2107448752 @default.
- W160488422 hasRelatedWork W2132278611 @default.
- W160488422 hasRelatedWork W2147350610 @default.
- W160488422 hasRelatedWork W2403635558 @default.
- W160488422 hasRelatedWork W2410558161 @default.
- W160488422 hasVolume "55" @default.
- W160488422 isParatext "false" @default.
- W160488422 isRetracted "false" @default.
- W160488422 magId "160488422" @default.
- W160488422 workType "article" @default.