|
Peroxisome biogenesis disorders
|
0.680 |
GeneticVariation
|
group |
BEFREE |
we reported the first Chinese PBD-ZSD patient with 2 novel mutations in PEX6.
|
31555682 |
2019 |
|
Peroxisome biogenesis disorders
|
0.680 |
CausalMutation
|
group |
CLINVAR |
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
|
29220678 |
2017 |
|
Peroxisome biogenesis disorders
|
0.680 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Peroxisome biogenesis disorders
|
0.680 |
CausalMutation
|
group |
CLINVAR |
Spectrum of PEX1 and PEX6 variants in Heimler syndrome.
|
27302843 |
2016 |
|
Peroxisome biogenesis disorders
|
0.680 |
CausalMutation
|
group |
CLINVAR |
Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder.
|
26700162 |
2016 |
|
Peroxisome biogenesis disorders
|
0.680 |
CausalMutation
|
group |
CLINVAR |
Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.
|
24016303 |
2013 |
|
Peroxisome biogenesis disorders
|
0.680 |
GeneticVariation
|
group |
CLINVAR |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |
|
Peroxisome biogenesis disorders
|
0.680 |
CausalMutation
|
group |
CLINVAR |
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
|
21031596 |
2011 |
|
Peroxisome biogenesis disorders
|
0.680 |
CausalMutation
|
group |
CLINVAR |
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.
|
19877282 |
2010 |
|
Peroxisome biogenesis disorders
|
0.680 |
CausalMutation
|
group |
CLINVAR |
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
|
19105186 |
2009 |
|
Peroxisome biogenesis disorders
|
0.680 |
CausalMutation
|
group |
CLINVAR |
Rational diagnostic strategy for Zellweger syndrome spectrum patients.
|
19142205 |
2009 |
|
Peroxisome biogenesis disorders
|
0.680 |
Biomarker
|
group |
BEFREE |
Matsumoto and colleagues recently identified PEX26 as the gene responsible for complementation group 8 of the peroxisome biogenesis disorders and showed that it encodes an integral peroxisomal membrane protein with a single C-terminal transmembrane domain and a cytosolic N-terminus that interacts with the PEX1/PEX6 heterodimer through direct binding to the latter.
|
15858711 |
2005 |
|
Peroxisome biogenesis disorders
|
0.680 |
CausalMutation
|
group |
CLINVAR |
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
|
15542397 |
2004 |
|
Peroxisome biogenesis disorders
|
0.680 |
AlteredExpression
|
group |
BEFREE |
Expression of PEX6 restored peroxisome assembly in fibroblasts from a CG6 PBD patient.
|
11355018 |
2001 |
|
Peroxisome biogenesis disorders
|
0.680 |
CausalMutation
|
group |
CLINVAR |
The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.
|
11355018 |
2001 |
|
Peroxisome biogenesis disorders
|
0.680 |
Biomarker
|
group |
BEFREE |
Two peroxin cDNAs, PEX2 and PEX6, were first cloned by genetic phenotype-complementation assay using Z65 and ZP92, respectively, and were shown to be responsible for peroxisome biogenesis disorders (PBD) such as Zellweger syndrome, of CG-F (the same as CG-X in U.S.A.) and CG-C (the same as CG-IV), respectively.
|
11330042 |
2000 |
|
Peroxisome biogenesis disorders
|
0.680 |
Biomarker
|
group |
BEFREE |
PEX6 is a causative gene for PBD of complementation group C (CG-C) and encodes the peroxin Pex6p, one of the ATPases associated with diverse cellular activities and a member of the same family of proteins as Pex1p, a causative protein for PBD of CG-E (CG1).
|
11004248 |
2000 |
|
Peroxisome biogenesis disorders
|
0.680 |
Biomarker
|
group |
CTD_human |
Most of the mutations led to premature termination or large deletions of the PEX6 protein and resulted in the most severe peroxisome biogenesis disorder phenotype of Zellweger syndrome.
|
10408779 |
1999 |
|
Peroxisome biogenesis disorders
|
0.680 |
GeneticVariation
|
group |
BEFREE |
Most of the mutations led to premature termination or large deletions of the PEX6 protein and resulted in the most severe peroxisome biogenesis disorder phenotype of Zellweger syndrome.
|
10408779 |
1999 |
|
Peroxisome biogenesis disorders
|
0.680 |
CausalMutation
|
group |
CLINVAR |
The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.
|
8670792 |
1996 |
|
Peroxisome biogenesis disorders
|
0.680 |
Biomarker
|
group |
BEFREE |
These results confirm that human PAF-2 cDNA restores peroxisome of group C cells and that defects in the PAF-2 produce peroxisome deficiency of group C PBD.
|
8940266 |
1996 |
|
Peroxisome biogenesis disorders
|
0.680 |
AlteredExpression
|
group |
BEFREE |
Expression of PXAAA1 restored peroxisomal protein import in fibroblasts from 16 unrelated members of complementation group 4 (CG4) of the PBD.
|
8670792 |
1996 |
|
Peroxisome biogenesis disorders
|
0.680 |
GeneticVariation
|
group |
CLINVAR |
These results confirm that human PAF-2 cDNA restores peroxisome of group C cells and that defects in the PAF-2 produce peroxisome deficiency of group C PBD.
|
8940266 |
1996 |
|
Peroxisome biogenesis disorders
|
0.680 |
Biomarker
|
group |
CTD_human |
These results confirm that human PAF-2 cDNA restores peroxisome of group C cells and that defects in the PAF-2 produce peroxisome deficiency of group C PBD.
|
8940266 |
1996 |