Zellweger Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants.
|
31628608 |
2020 |
Zellweger Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel compound heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome based on whole exome sequencing.
|
28432012 |
2017 |
Zellweger Syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.
|
26319495 |
2015 |
Zellweger Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing.
|
23247051 |
2013 |
Zellweger Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant.
|
22378672 |
2012 |
Zellweger Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PEX1 are the most common primary cause of Zellweger syndrome.
|
21846392 |
2011 |
Zellweger Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
We found that remnant peroxisomes in fibroblasts from patients with PEX1-null Zellweger syndrome or D-BP deficiency exhibited clustering and loss of alignment along peripheral microtubules.
|
16449325 |
2006 |
Zellweger Syndrome
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.
|
16086329 |
2005 |
Zellweger Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To exclude that genetic differences, resulting in different defects in peroxisomal biogenesis, have differential effects on the activity of the cholesterol biosynthetic enzymes and on de novo cholesterol biosynthesis, we chose fibroblasts of patients with defined defects in one of four different PEX genes leading to Zellweger syndrome (PEX1, PEX5, PEX16 or PEX19).
|
14680974 |
2003 |
Zellweger Syndrome
|
0.800 |
Biomarker
|
disease |
LHGDN |
Study of mutant proteins with folding defects in cultured patient cells.
|
12840548 |
2003 |
Zellweger Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
A complete lack of PEX1 protein was found to be associated with severe ZS; however, residual amounts of PEX1 protein were found in patients with the milder phenotypes, NALD and IRD.
|
11389485 |
2001 |
Zellweger Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, previous studies have focused on mildly affected patients and there is still no report of two mutant PEX1 alleles in any Zellweger syndrome patient.
|
10447258 |
1999 |
Zellweger Syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
To address the molecular basis of disease in Zellweger syndrome patients from CG1, we examined all 24 PEX1 exons in four patients, including both patients that have mutations in PMP70.
|
10447258 |
1999 |
Zellweger Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A Zellweger syndrome patient who was homozygous for this mutation and who survived for less than two months from birth had undetectable levels of PEX1 mRNA.
|
10480353 |
1999 |
Zellweger Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.
|
9539740 |
1998 |
Zellweger Syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.
|
9539740 |
1998 |
Zellweger Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.
|
9398847 |
1997 |
Zellweger Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.
|
9398848 |
1997 |
Zellweger Syndrome
|
0.800 |
Biomarker
|
disease |
MGD |
|
|
|