Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives
NE Braverman, MD D'Agostino… - Developmental …, 2013 - Wiley Online Library
The peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal
recessive disorders in which peroxisome assembly is impaired, leading to multiple …
recessive disorders in which peroxisome assembly is impaired, leading to multiple …
Peroxisome biogenesis disorders: genetics and cell biology
SJ Gould, D Valle - Trends in Genetics, 2000 - cell.com
Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease and
rhizomelic chondrodysplasia punctata are progressive disorders characterized by loss of …
rhizomelic chondrodysplasia punctata are progressive disorders characterized by loss of …
Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels
C Walter, J Gootjes, PA Mooijer, H Portsteffen… - The American Journal of …, 2001 - cell.com
Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum
disease (IRD) are clinically overlapping syndromes, collectively called" peroxisome …
disease (IRD) are clinically overlapping syndromes, collectively called" peroxisome …
[HTML][HTML] Peroxisome biogenesis disorders
SJ Steinberg, G Dodt, GV Raymond… - … et Biophysica Acta (BBA …, 2006 - Elsevier
Defects in PEX genes impair peroxisome assembly and multiple metabolic pathways
confined to this organelle, thus providing the biochemical and molecular bases of the …
confined to this organelle, thus providing the biochemical and molecular bases of the …
Temperature-Sensitive Mutation in PEX1 Moderates the Phenotypes of Peroxisome Deficiency Disorders
A Imamura, S Tamura, N Shimozawa… - Human molecular …, 1998 - academic.oup.com
The peroxisome biogenesis disorders (PBDs), including Zellweger syndrome (ZS), neonatal
adrenoleuko-dystrophy (NALD) and infantile Refsum disease (IRD), are autosomal …
adrenoleuko-dystrophy (NALD) and infantile Refsum disease (IRD), are autosomal …
Genotype–phenotype correlations in disorders of peroxisome biogenesis
HW Moser - Molecular genetics and metabolism, 1999 - Elsevier
Genetically determined human peroxisomal disorders are subdivided into two major
categories: disorders of peroxisome biogenesis (PBD), in which the organelle is not formed …
categories: disorders of peroxisome biogenesis (PBD), in which the organelle is not formed …
PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease
N Preuss, UTE Brosius, M Biermanns, AC Muntau… - Pediatric …, 2002 - nature.com
The peroxisome biogenesis disorders (PBD) are a group of autosomal-recessive diseases
with complex developmental and metabolic phenotypes, including the Zellweger spectrum …
with complex developmental and metabolic phenotypes, including the Zellweger spectrum …
Peroxisome biogenesis disorders
C Argyriou, MD D'Agostino… - Translational science of …, 2016 - journals.sagepub.com
Peroxisome biogenesis disorders (PBD) are a group of conditions caused by a partial or
generalized defect in peroxisome biogenesis. They encompass two phenotypic groups: 1 …
generalized defect in peroxisome biogenesis. They encompass two phenotypic groups: 1 …
PEX3 is the causal gene responsible for peroxisome membrane assembly–defective Zellweger syndrome of complementation group G
K Ghaedi, M Honsho, N Shimozawa, Y Suzuki… - The American Journal of …, 2000 - cell.com
Peroxisome biogenesis disorders (PBDs) such as Zellweger syndrome (ZS) and neonatal
adrenoleukodystrophy are autosomal recessive diseases caused by defects in peroxisome …
adrenoleukodystrophy are autosomal recessive diseases caused by defects in peroxisome …
[HTML][HTML] Genetics and molecular basis of human peroxisome biogenesis disorders
HR Waterham, MS Ebberink - … et Biophysica Acta (BBA)-Molecular Basis of …, 2012 - Elsevier
Human peroxisome biogenesis disorders (PBDs) are a heterogeneous group of autosomal
recessive disorders comprised of two clinically distinct subtypes: the Zellweger syndrome …
recessive disorders comprised of two clinically distinct subtypes: the Zellweger syndrome …