Sharayu Jangam

Abstract X-linked adrenoleukodystrophy (X-ALD) is a progressive neurodegenerative disorder caused by a loss-of-function (LOF) mutation in the ATP-binding cassette subfamily D member 1 (ABCD1) gene, leading to the accumulation of very long-chain fatty acids (VLCFAs).

10.1093/brain/awaf035 Post-print Humans, DEAD-box RNA Helicases, Male, Female, Animals, Neurodevelopmental Disorders, Child, Child, Preschool, Pedigree, Mutation, Missense, Zebrafish, Developmental Disabilities, HEK293 Cells, Infant, Adolescent, neurodevelopmental disorder, DDX39B, TRanscription-EXport (TREX) super protein complex, zebrafish and Drosophila functional studies, transcriptomics yes Booth, Kevin T A; Jangam, Sharayu V; Chui, Martin M C; et al., "De Novo and Inherited Variants in...

1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA 2Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston TX 77030 3Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA 4School of Psychology, University of Houston, Houston, TX, USA 5Department of Psychiatry, Baylor College of Medicine, Houston, TX, USA 6Department of Pediatrics,...