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 (RCDP1) is a peroxisome biogenesis disorder caused by defects in PEX7 leading to impairment in plasmalogen (Pls) biosynthesis and phytanic acid (PA) oxidation. Pls deficiency is the main pathogenic factor that determines the severity of RCDP. Severe (class...

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Detalles Bibliográficos
Autores principales: Fallatah, Wedad, Cui, Wei, Di Pietro, Erminia, Carter, Grace T., Pounder, Brittany, Dorninger, Fabian, Pifl, Christian, Moser, Ann B., Berger, Johannes, Braverman, Nancy E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9310236/
https://www.ncbi.nlm.nih.gov/pubmed/35898397
http://dx.doi.org/10.3389/fcell.2022.886316

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9310236/
https://www.ncbi.nlm.nih.gov/pubmed/35898397
http://dx.doi.org/10.3389/fcell.2022.886316

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