Peroxisomal Proliferation Induced by Treatment with Clofibrate in a Patient with a Peroxisomal Disease

2000 ◽  
Vol 32 (1-3) ◽  
pp. 329-332
Author(s):  
Julio Sepúlveda ◽  
Fidencio Gutiérrez ◽  
Myrthala Moreno ◽  
Andrés Hernández
Keyword(s):  
Peroxisomal Disease

Myopathy and peroxisomal disease

1987 ◽  
Vol 3 (1) ◽  
pp. 62
Author(s):  
Harvey B. Sarnat
Keyword(s):  
Peroxisomal Disease

scholarly journals Successful Correction of ALD Patient-derived iPSCs Using CRISPR/Cas9

2020 ◽  
Author(s):  
Eul Sik Jung ◽  
Zhejiu Quan ◽  
Mi-Yoon Chang ◽  
Wonjun Hong ◽  
Ji Hun Kim ◽  
...  
Keyword(s):  
Stem Cell ◽  
Genome Editing ◽  
Phenotype Correlation ◽  
Mutation Site ◽  
Metabolic Derangement ◽  
Hematopoietic Stem ◽  
Peroxisomal Disease ◽  
Homology Directed Repair ◽  
Progressive Myelopathy ◽  
Cerebral Inflammation

AbstractX-linked adrenoleukodystrophy (ALD) caused by the ABCD1 mutation, is the most common inherited peroxisomal disease. It is characterized by three phenotypes: inflammatory cerebral demyelination, progressive myelopathy, and adrenal insufficiency, but there is no genotype-phenotype correlation. Hematopoietic stem cell transplantation can only be used in a few patients in the early phase of cerebral inflammation; therefore, most affected patients have no curative option. Previously, we reported the generation of an ALD patient-derived iPSC model and its differentiation to oligodendrocytes. In this study, we have performed the first genome editing of ALD patient-derived iPSCs using homology-directed repair (HDR). The mutation site, c.1534G>A [GenBank: NM_000033.4], was corrected by introducing ssODN and the CRISPR/Cas9 system. The cell line exhibited normal ALD protein expression following genome editing. We differentiated the intermediate oligodendrocytes from mutation-corrected iPSCs and the metabolic derangement of ALD tended to correct but was not statistically significant. Mutation-corrected iPSCs from ALD patient can be used in research into the pathophysiology of and therapeutics for ALD.

Short Report: Plasma pipecolic acid is frequently elevated in non-peroxisomal disease

2003 ◽  
Vol 25 (8) ◽  
pp. 699-701 ◽  
Author(s):  
J. C. M. Baas ◽  
R. van de Laar ◽  
L. Dorland ◽  
M. Duran ◽  
R. Berger ◽  
...  
Keyword(s):  
Pipecolic Acid ◽  
Short Report ◽  
Peroxisomal Disease

Glyceryl ethers in peroxisomal disease

2008 ◽  
Vol 39 (1) ◽  
pp. 13-25 ◽  
Author(s):  
A. Poulos ◽  
A. Bankier ◽  
K. Beckman ◽  
D. Johnson ◽  
E. F. Robertson ◽  
...  
Keyword(s):  
Peroxisomal Disease

Very Long-Chain Fatty Acids in Peroxisomal Disease

1992 ◽  
pp. 331-340 ◽  
Author(s):  
A. Poulos ◽  
K. Beckman ◽  
D. W. Johnson ◽  
B. C. Paton ◽  
B. S. Robinson ◽  
...  
Keyword(s):  
Fatty Acids ◽  
Long Chain Fatty Acids ◽  
Peroxisomal Disease ◽  
Long Chain ◽  
Chain Fatty Acids

Violent death in a rare peroxisomal disease—Zellweger syndrome

2015 ◽  
Vol 255 ◽  
pp. 89-95
Author(s):  
Bogdan Malinescu ◽  
Eliza Martius ◽  
Ana Maria Pelin
Keyword(s):  
Zellweger Syndrome ◽  
Violent Death ◽  
Peroxisomal Disease
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