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VAPs and ACBD5 tether peroxisomes to the ER for peroxisome maintenance and lipid homeostasis

The Journal of cell biology, 2017-02, Vol.216 (2), p.367-377

2017

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Peroxisomes and cancer: The role of a metabolic specialist in a disease of aberrant metabolism

Biochimica et biophysica acta. Reviews on cancer, 2018-08, Vol.1870 (1), p.103-121

2018

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Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature

American journal of medical genetics. Part A, 2022-11, Vol.188 (11), p.3229-3235

2022

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Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata

Disease models & mechanisms, 2020-01, Vol.13 (1)

2020

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Zellweger spectrum disorder patient–derived fibroblasts with the PEX1‐Gly843Asp allele recover peroxisome functions in response to flavonoids

Journal of cellular biochemistry, 2019-03, Vol.120 (3), p.3243-3258

2019

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Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata

Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.1021-1038

2021

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Peroxisomes protect lymphoma cells from HDAC inhibitor-mediated apoptosis

Cell death and differentiation, 2017-11, Vol.24 (11), p.1912-1924

2017

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Mammalian Fibroblasts Lacking Mitochondrial NAD+-dependent Methylenetetrahydrofolate Dehydrogenase-Cyclohydrolase Are Glycine Auxotrophs

The Journal of biological chemistry, 2003-05, Vol.278 (21), p.19436-19441

2003

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AAV-mediated PEX1 gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder

Molecular therapy. Methods & clinical development, 2021-12, Vol.23, p.225-240

2021

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A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity—Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1

Frontiers in cell and developmental biology, 2022-07, Vol.10, p.886316-886316

2022

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Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene

Journal of clinical research in pediatric endocrinology, 2015-03, Vol.7 (1), p.69-72

2015

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Gene expression pattern of Claudin-1 during chick embryogenesis

Gene Expression Patterns, 2005-04, Vol.5 (4), p.553-560

2005

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The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders

Autophagy, 2017-05, Vol.13 (5), p.868-884

2017

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A PEX1 terminal deletion retains partial PEX1 protein function resulting in an attenuated Zellweger spectrum phenotype

Molecular genetics and metabolism, 2021-04, Vol.132, p.S164

2021

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Molecular, biochemical and neuropathological characterization of novel PEX7 deletion variants in patients with classic (severe) rhizomelic chondrodysplasia punctata type 1

Molecular genetics and metabolism, 2021-04, Vol.132, p.S286

2021

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eP448 - Molecular, biochemical and neuropathological characterization of novel PEX7 deletion variants in patients with classic (severe) rhizomelic chondrodysplasia punctata type 1

Molecular genetics and metabolism, 2021-04, Vol.132, p.S286-S286

2021

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eP260 - A PEX1 terminal deletion retains partial PEX1 protein function resulting in an attenuated Zellweger spectrum phenotype

Molecular genetics and metabolism, 2021-04, Vol.132, p.S164-S164

2021

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Alterations in heart looping induced by overexpression of the tight junction protein Claudin-1 are dependent on its C-terminal cytoplasmic tail

Mechanisms of development, 2006-03, Vol.123 (3), p.210-227

2006

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A longitudinal study of retinopathy in the PEX1-Gly844Asp mouse model for mild Zellweger Spectrum Disorder

Experimental eye research, 2019-09, Vol.186, p.107713-107713, Article 107713

2019

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Silencing PEX26 as an unconventional mode to kill drug-resistant cancer cells and forestall drug resistance

Autophagy, 2022-03, Vol.18 (3), p.540-558

2022

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Evaluation of clinical safety and tolerance of a Lactobacillus reuteri NCIMB 30242 supplement capsule: A randomized control trial

Regulatory toxicology and pharmacology, 2012-07, Vol.63 (2), p.313-320

2012

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

Journal of cellular biochemistry, 2011-05, Vol.112 (5), p.1250-1258

2011

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AB012. Retinopathy in a mouse model for Zellweger spectrum disorder

Annals of Eye Science, 2018-03, Vol.3, p.AB012-AB012

2018

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Chick Claudin-1 function in the establishment of the left–right axis

Developmental biology, 2006-07, Vol.295 (1), p.401-402

2006

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The expression of mitochondrial methylenetetrahydrofolate dehydrogenase-cyclohydrolase supports a role in rapid cell growth

Biochimica et biophysica acta, 2004-09, Vol.1674 (1), p.78-84

2004

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VAPs and ACBD5 tether peroxisomes to the ER for peroxisome maintenance and lipid homeostasis

Peroxisomes and cancer: The role of a metabolic specialist in a disease of aberrant metabolism

Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature

Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata

Zellweger spectrum disorder patient–derived fibroblasts with the PEX1‐Gly843Asp allele recover peroxisome functions in response to flavonoids

Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata

Peroxisomes protect lymphoma cells from HDAC inhibitor-mediated apoptosis

Mammalian Fibroblasts Lacking Mitochondrial NAD+-dependent Methylenetetrahydrofolate Dehydrogenase-Cyclohydrolase Are Glycine Auxotrophs

AAV-mediated PEX1 gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder

A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity—Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1

Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene

Gene expression pattern of Claudin-1 during chick embryogenesis

The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders

A PEX1 terminal deletion retains partial PEX1 protein function resulting in an attenuated Zellweger spectrum phenotype

Molecular, biochemical and neuropathological characterization of novel PEX7 deletion variants in patients with classic (severe) rhizomelic chondrodysplasia punctata type 1

eP448 - Molecular, biochemical and neuropathological characterization of novel PEX7 deletion variants in patients with classic (severe) rhizomelic chondrodysplasia punctata type 1

eP260 - A PEX1 terminal deletion retains partial PEX1 protein function resulting in an attenuated Zellweger spectrum phenotype

Alterations in heart looping induced by overexpression of the tight junction protein Claudin-1 are dependent on its C-terminal cytoplasmic tail

A longitudinal study of retinopathy in the PEX1-Gly844Asp mouse model for mild Zellweger Spectrum Disorder

Silencing PEX26 as an unconventional mode to kill drug-resistant cancer cells and forestall drug resistance

Evaluation of clinical safety and tolerance of a Lactobacillus reuteri NCIMB 30242 supplement capsule: A randomized control trial

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

AB012. Retinopathy in a mouse model for Zellweger spectrum disorder

Chick Claudin-1 function in the establishment of the left–right axis

The expression of mitochondrial methylenetetrahydrofolate dehydrogenase-cyclohydrolase supports a role in rapid cell growth

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