☆ 4.5 Review

PEX6 Mutation in a Child with Infantile Refsum Disease-A Case Report and Literature Review

CHILDREN-BASEL (2023)

Related references

Note: Only part of the references are listed.

Review Nutrition & Dietetics

The Influence of the Differentiation of Genes Encoding Peroxisome Proliferator-Activated Receptors and Their Coactivators on Nutrient and Energy Metabolism

Agnieszka Maciejewska-Skrendo et al.

Summary: Genetic components are important in regulating nutrient and energy metabolism, specifically through genetic variants that can cause metabolic dysregulation and impact weight loss after diet and exercise interventions. The peroxisome proliferator-activated receptors (PPARs) and their coactivators play a role in nutrient and energy metabolism. Genetic analysis can complement the work of a dietitian or trainer in creating personalized plans that utilize innate metabolic characteristics.

NUTRIENTS (2022)

Add to Collection

Article Genetics & Heredity

Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B

Suzena Masih et al.

Summary: Peroxisome biogenesis disorders are a group of autosomal recessive disorders caused by impaired peroxisome assembly, resulting in abnormal formation of functional peroxisomes. Genetic mutations in the PEX gene family lead to diverse disease manifestations, ranging from severe neurologic symptoms in infants to progressive degenerative diseases in adults. Specific variations in PEX7 are associated with different phenotypes, including severe rhizomelic chondrodysplasia punctata type 1 and milder allelic disorders such as PBD 9B, sometimes presenting with similar symptoms to classic Refsum disease. This variability highlights the importance of considering PBD 9B in children with neurodevelopmental abnormalities, especially if they also have congenital cataract.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

Add to Collection

Review Cardiac & Cardiovascular Systems

PPAR control of metabolism and cardiovascular functions

David Montaigne et al.

Summary: Novel PPAR agonists offer new opportunities for managing metabolic and cardiovascular diseases by regulating gene expression, lipid metabolism, insulin sensitivity, glucose metabolism, and cardiovascular health. Activation of PPARs by specific ligands can have antiatherogenic, anti-inflammatory, and metabolic benefits, making them important therapeutic targets in the treatment of various diseases.

NATURE REVIEWS CARDIOLOGY (2021)

Add to Collection

Article Medicine, Research & Experimental

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

Catherine Argyriou et al.

Summary: This study evaluated PEX1 retinal gene augmentation therapy in a mouse model of Zellweger spectrum disorder, showing partial normalization of peroxisomal metabolic functions and significantly improved retinal response after therapeutic vector treatment. These results suggest the potential for retinal gene delivery to improve vision in patients with peroxisome biogenesis disorders.

MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2021)

Add to Collection

Review Oncology

Phytol and its metabolites phytanic and pristanic acids for risk of cancer: current evidence and future directions

Gerd Bobe et al.

EUROPEAN JOURNAL OF CANCER PREVENTION (2020)

Add to Collection

Article Agriculture, Dairy & Animal Science

Effects of dietary phytol on tissue accumulation of phytanic acid and pristanic acid and on the tissue lipid profiles in mice

Tomonori Nakanishi et al.

ANIMAL SCIENCE JOURNAL (2020)

Add to Collection

Article Pediatrics

Phytanic acid attenuates insulin-like growth factor-1 activity via nitric oxide-mediated γ-secretase activation in rat aortic smooth muscle cells: possible implications for pathogenesis of infantile Refsum disease

Gursev S. Dhaunsi et al.

PEDIATRIC RESEARCH (2017)

Add to Collection

Article Endocrinology & Metabolism

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

Nancy E. Braverman et al.

MOLECULAR GENETICS AND METABOLISM (2016)

Add to Collection

Review Geriatrics & Gerontology

Brain Lipotoxicity of Phytanic Acid and Very Long-chain Fatty Acids. Harmful Cellular/Mitochondrial Activities in Refsum Disease and X-Linked Adrenoleukodystrophy

Peter Schoenfeld et al.

AGING AND DISEASE (2016)

Add to Collection

Review Clinical Neurology

PEROXISOME BIOGENESIS DISORDERS: BIOLOGICAL, CLINICAL AND PATHOPHYSIOLOGICAL PERSPECTIVES

Nancy E. Braverman et al.

DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS (2013)

Add to Collection

Review Biochemistry & Molecular Biology

Phytanic acid metabolism in health and disease

Ronald J. A. Wanders et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2011)

Add to Collection

Article Clinical Neurology

Phenotype of adult Refsum disease due to a defect in peroxin 7

M. A. Horn et al.

NEUROLOGY (2007)

Add to Collection

Article Cell Biology

Nitric oxide-induced inhibition of smooth muscle cell proliferation involves S-nitrosation and inactivation of RhoA

Brian S. Zuckerbraun et al.

AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2007)

Add to Collection

Review Genetics & Heredity

Molecular basis of Refsum disease: Sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7)

GA Jansen et al.

HUMAN MUTATION (2004)

Add to Collection

Article Biochemistry & Molecular Biology

Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease?

V Foulon et al.

JOURNAL OF LIPID RESEARCH (2003)

Add to Collection

Article Biochemistry & Molecular Biology

Branched chain fatty acids induce nitric oxide-dependent apoptosis in vascular smooth muscle cells

S Idel et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2002)

Add to Collection

© Peeref 2019-2024. All rights reserved.