(Q38116808)

29 August 2017

title

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives (English)

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29 August 2017

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Nancy E Braverman

1

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29 August 2017

Maria Daniela D'Agostino

series ordinal

2

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29 August 2017

Gillian E Maclean

series ordinal

3

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29 August 2017

publication date

1 January 2013

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Developmental Disabilities Research Reviews

29 August 2017

published in

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29 August 2017

volume

17

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29 August 2017

issue

3

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29 August 2017

page(s)

187-196

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Peroxisomes, myelination, and axonal integrity in the CNS.

29 August 2017

cites work

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Generalised and conditional inactivation of Pex genes in mice

21 January 2018

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MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata

21 January 2018

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Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival

21 January 2018

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Christian de Duve and the discovery of lysosomes and peroxisomes

21 January 2018

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Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

21 January 2018

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Functions of plasmalogen lipids in health and disease

21 January 2018

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A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton

21 January 2018

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Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice

21 January 2018

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Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata

21 January 2018

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Dietary ether lipid incorporation into tissue plasmalogens of humans and rodents

21 January 2018

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Absence of peroxisomes in mouse hepatocytes causes mitochondrial and ER abnormalities

21 January 2018

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Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations

21 January 2018

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Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

21 January 2018

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Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder

21 January 2018

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Peroxisome turnover by micropexophagy: an autophagy-related process

21 January 2018

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Abnormal cerebellar histogenesis in PEX2 Zellweger mice reflects multiple neuronal defects induced by peroxisome deficiency

21 January 2018

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

21 January 2018

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PPARalpha: mechanism of species differences and hepatocarcinogenesis of peroxisome proliferators

21 January 2018

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The AAA-type ATPases Pex1p and Pex6p and their role in peroxisomal matrix protein import in Saccharomyces cerevisiae.

21 January 2018

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AAA+ proteins: have engine, will work

21 January 2018

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Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome).

21 January 2018

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Peroxisome dynamics in cultured mammalian cells.

21 January 2018

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Hitchhiking of Cu/Zn superoxide dismutase to peroxisomes--evidence for a natural piggyback import mechanism in mammals

21 January 2018

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Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.

21 January 2018

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Docosahexaenoic acid deficit is not a major pathogenic factor in peroxisome-deficient mice

21 January 2018

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Loss of peroxisome function triggers necrosis.

21 January 2018

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Defective peroxisomal cleavage of the C27-steroid side chain in the cerebro-hepato-renal syndrome of Zellweger

21 January 2018

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Axonal loss and neuroinflammation caused by peroxisome-deficient oligodendrocytes

21 January 2018

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Flavonoids inhibit breast cancer resistance protein-mediated drug resistance: transporter specificity and structure-activity relationship.

21 January 2018

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Combined deficiency of peroxisomal beta-oxidation and ether lipid synthesis in mice causes only minor cortical neuronal migration defects but severe hypotonia

21 January 2018

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Neocortical and cerebellar developmental abnormalities in conditions of selective elimination of peroxisomes from brain or from liver

21 January 2018

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Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7.

21 January 2018

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PEX11alpha is required for peroxisome proliferation in response to 4-phenylbutyrate but is dispensable for peroxisome proliferator-activated receptor alpha-mediated peroxisome proliferation

21 January 2018

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PEX11 beta deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function

21 January 2018

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Blind sterile 2 (bs2), a hypomorphic mutation in Agps, results in cataracts and male sterility in mice

21 January 2018

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Crystal structure of a human cyclin-dependent kinase 6 complex with a flavonol inhibitor, fisetin

21 January 2018

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Protein quaternary structure and expression levels contribute to peroxisomal-targeting-sequence-1-mediated peroxisomal import of human soluble epoxide hydrolase

21 January 2018

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Peroxisome assembly: matrix and membrane protein biogenesis.

21 January 2018

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Ataxia and peripheral neuropathy: a benign variant of peroxisome dysgenesis

21 January 2018

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A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing.

21 January 2018

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Peroxisome biogenesis: something old, something new, something borrowed

21 January 2018

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Identification of PAHX, a Refsum disease gene

21 January 2018

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The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis

21 January 2018

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Shuttling mechanism of peroxisome targeting signal type 1 receptor Pex5: ATP-independent import and ATP-dependent export

21 January 2018

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Visual follow-up in peroxisomal-disorder patients treated with docosahexaenoic Acid ethyl ester

21 January 2018

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Peroxisome biogenesis: recent advances

21 January 2018

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Peroxisomes: membrane events accompanying peroxisome proliferation

21 January 2018

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Docosahexaenoic acid therapy in peroxisomal diseases: results of a double-blind, randomized trial

21 January 2018

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The AAA peroxins Pex1p and Pex6p function as dislocases for the ubiquitinated peroxisomal import receptor Pex5p

21 January 2018

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Ubiquitination of the peroxisomal import receptor Pex5p is required for its recycling

21 January 2018

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Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.

21 January 2018

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Different functions of the C3HC4 zinc RING finger peroxins PEX10, PEX2, and PEX12 in peroxisome formation and matrix protein import

21 January 2018

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A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents

21 January 2018

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Protein import machineries of peroxisomes

21 January 2018

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A novel role of peroxin PEX6: suppression of aging defects in mitochondria

21 January 2018

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Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

21 January 2018

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High content screening for non-classical peroxisome proliferators

21 January 2018

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Hepatocyte transplantation in a 4-year-old girl with peroxisomal biogenesis disease: technique, safety, and metabolic follow-up

21 January 2018

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The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum

21 January 2018

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Peroxisome biogenesis disorders

21 January 2018

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A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts

21 January 2018

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Defects in myelination, paranode organization and Purkinje cell innervation in the ether lipid-deficient mouse cerebellum

21 January 2018

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21 January 2018

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AAA proteins. Lords of the ring

21 January 2018

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Identification of PEX7 as the second gene involved in Refsum disease

21 January 2018

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Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type.

21 January 2018

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Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels

21 January 2018

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Peroxisomal disorders: the single peroxisomal enzyme deficiencies

21 January 2018

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Biochemistry of mammalian peroxisomes revisited

21 January 2018

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A lethal defect of mitochondrial and peroxisomal fission

21 January 2018

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Natural history of rhizomelic chondrodysplasia punctata.

21 January 2018

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Proteomics characterization of mouse kidney peroxisomes by tandem mass spectrometry and protein correlation profiling

21 January 2018

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MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.

21 January 2018

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In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor

21 January 2018

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Oral bioavailability of the ether lipid plasmalogen precursor, PPI-1011, in the rabbit: a new therapeutic strategy for Alzheimer's disease

21 January 2018

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Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders

21 January 2018

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A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C

21 January 2018

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Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds

21 January 2018

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Primary hyperparathyroidism associated with pancytosis

21 January 2018

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7 January 2021

Bile acid treatment alters hepatic disease and bile acid transport in peroxisome-deficient PEX2 Zellweger mice

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7 January 2021

Contrast enhancement of brainstem tracts in Zellweger spectrum disorder: evidence of inflammatory demyelination?

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7 January 2021

The role of dimerization of alanine:glyoxylate aminotransferase 1 in its peroxisomal and mitochondrial import

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7 January 2021

Oral bile Acid treatment in two Japanese patients with Zellweger syndrome

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7 January 2021

The peroxisomal importomer constitutes a large and highly dynamic pore

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7 January 2021

Degradation of very long chain dicarboxylic polyunsaturated fatty acids in mouse hepatocytes, a peroxisomal process

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7 January 2021

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7 January 2021

Oral bile acid treatment and the patient with zellweger syndrome

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7 January 2021

Pharmacological induction of peroxisomes in peroxisome biogenesis disorders

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7 January 2021

Identifiers

DOI

10.1002/DDRR.1113

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29 August 2017

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