Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome (Q28207783)

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301993

10 September 2022

H. Moser

series ordinal

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301993

10 September 2022

D. Valle

series ordinal

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301993

Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant

10 September 2022

language of work or name

English

0 references

publication date

April 1992

0 references

published in

Nature Genetics

0 references

volume

1

0 references

issue

1

0 references

page(s)

16-23

0 references

cites work

1 reference

Assembly and function of the two ABC transporter proteins encoded in the human major histocompatibility complex

21 April 2017

1 reference

Structural model of ATP-binding proteins associated with cystic fibrosis, multidrug resistance and bacterial transport

21 April 2017

1 reference

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

21 April 2017

1 reference

How proteins get into microbodies (peroxisomes, glyoxysomes, glycosomes).

21 April 2017

1 reference

Identification of peroxisomal targeting signals located at the carboxy terminus of four peroxisomal proteins

21 January 2018

1 reference

Translocation of acyl-CoA oxidase into peroxisomes requires ATP hydrolysis but not a membrane potential

21 January 2018

1 reference

Deficient activities and proteins of peroxisomal beta-oxidation enzymes in infants with Zellweger syndrome

21 January 2018

1 reference

Transport proteins. Export-import family expands

21 January 2018

1 reference

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

21 January 2018

1 reference

A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing

21 January 2018

1 reference

Clonal expansion of p53 mutant cells is associated with brain tumour progression

21 January 2018

1 reference

Presentation of viral antigen by MHC class I molecules is dependent on a putative peptide transporter heterodimer

21 January 2018

1 reference

Peroxisomes (microbodies and related particles)

21 January 2018

1 reference

7 January 2021

Biogenesis of peroxisomes

1 reference

7 January 2021

Biosynthesis of membrane polypeptides of rat liver peroxisomes

1 reference

7 January 2021

The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects

1 reference

7 January 2021

Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome

1 reference

7 January 2021

Zellweger syndrome: biochemical and morphological studies on two patients treated with clofibrate

1 reference

7 January 2021

Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease

1 reference

7 January 2021

The 22-kD peroxisomal integral membrane protein in Zellweger syndrome--presence, abundance, and association with a peroxisomal thiolase precursor protein

1 reference

7 January 2021

Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis

1 reference

7 January 2021

Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients

1 reference

7 January 2021

Peroxisomal disorders: complementation analysis using beta-oxidation of very long chain fatty acids

1 reference

7 January 2021

A human gene responsible for Zellweger syndrome that affects peroxisome assembly

1 reference

7 January 2021

A family of closely related ATP-binding subunits from prokaryotic and eukaryotic cells

1 reference

7 January 2021

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

1 reference

7 January 2021

Identification of the cystic fibrosis gene: chromosome walking and jumping

1 reference

7 January 2021

Polymerase chain reaction with single-sided specificity: analysis of T cell receptor delta chain

1 reference

7 January 2021

Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer

1 reference

7 January 2021

1 reference

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

7 January 2021

Dinucleotide repeat polymorphism at the D15S87 locus

1 reference

7 January 2021

Dinucleotide repeat polymorphisms at the D8S85, D8S87, and D8S88 loci

1 reference

7 January 2021

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

1 reference

7 January 2021

Donor splice site mutation in the apolipoprotein (Apo) C-II gene (Apo C-IIHamburg) of a patient with Apo C-II deficiency

1 reference

7 January 2021

Tissue-specific splicing mutation in acute intermittent porphyria.

1 reference

7 January 2021

Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis

1 reference

7 January 2021

Molecular basis of hereditary C3 deficiency

1 reference

7 January 2021

Ham-2 corrects the class I antigen-processing defect in RMA-S cells

1 reference

7 January 2021

Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation

1 reference

7 January 2021

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

1 reference

7 January 2021

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

7 January 2021

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

7 January 2021

Direct detection of the common Mediterranean beta-thalassemia gene with synthetic DNA probes. An alternative approach for prenatal diagnosis

1 reference

7 January 2021

Determination of nucleic acid sequence homologies and relative concentrations by a dot hybridization procedure

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG0492-16

0 references