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Genetic analysis of Pycr1 and Pycr2 in mice.

Genetics - 17 May 2021

Stum Morgane G, Tadenev Abigail L D, Seburn Kevin L, Miers Kathy E, Poon Pak P, McMaster Christopher R, Robinson Carolyn, Kane Coleen, Silva Kathleen A, Cliften Paul F, Sundberg John P, Reinholdt Laura G, John Simon W M, Burgess Robert W

Abstract excerpt

The final step in proline biosynthesis is catalyzed by three pyrroline-5-carboxylate reductases, PYCR1, PYCR2, and PYCR3, which convert pyrroline-5-carboxylate (P5C) to proline. Mutations in human PYCR1 and ALDH18A1 (P5C Synthetase) cause Cutis Laxa (CL), whereas mutations in PYCR2 cause hypomyelinating leukodystrophy 10 (HLD10). Here, we investigated the genetics of Pycr1 and Pycr2 in mice. A null allele of...

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PMID: 33734376
DOI: 10.1093/genetics/iyab048
PMCID: PMC8128379

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