2 documents found, page 1 of 1
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a cl...
Kaiyrzhanov, Rauan; Mohammed, Sami E.M.; Maroofian, Reza; Husain, Ralf A.; Catania, Alessia; Torraco, Alessandra; Alahmad, Ahmad; Dutra-Clarke, MarinaLeucine zipper-EF-hand containing transmembrane protein 1 (LETM1) encodes an inner mitochondrial membrane protein with an osmoregulatory function controlling mitochondrial volume and ion homeostasis. The putative association of LETM1 with a human disease was initially suggested in Wolf-Hirschhorn syndrome, a disorder that results from de novo monoallelic deletion of chromosome 4p16.3, a region encompassing LETM...
SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma
Young, Terri L.; Whisenhunt, Kristina N.; Jin, Jing; LaMartina, Sarah M.; Martin, Sean M.; Souma, Tomokazu; Limviphuvadh, Vachiranee; Suri, FatemehPURPOSE. Affecting children by age 3, primary congenital glaucoma (PCG) can cause debilitating vision loss by the developmental impairment of aqueous drainage resulting in high intraocular pressure (IOP), globe enlargement, and optic neuropathy. TEK haploinsufficiency accounts for 5% of PCG in diverse populations, with low penetrance explained by variable dysgenesis of Schlemm’s canal (SC) in mice. We report ei...