Intellectual disability-associated factor Zbtb11 cooperates with NRF-2/GABP to control mitochondrial function
نویسندگان
چکیده
منابع مشابه
Autism and Intellectual Disability Associated with Mitochondrial Disease and Hyperlactacidemia
Autism spectrum disorder (ASD) with intellectual disability (ID) is a life-long debilitating condition, which is characterized by cognitive function impairment and other neurological signs. Children with ASD-ID typically attain motor skills with a significant delay. A sub-group of ASD-IDs has been linked to hyperlactacidemia and alterations in mitochondrial respiratory chain activity. The objec...
متن کاملPQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth.
Polyglutamine-binding protein 1 (PQBP1) is a highly conserved protein associated with neurodegenerative disorders. Here, we identify PQBP1 as an alternative messenger RNA (mRNA) splicing (AS) effector capable of influencing splicing of multiple mRNA targets. PQBP1 is associated with many splicing factors, including the key U2 small nuclear ribonucleoprotein (snRNP) component SF3B1 (subunit 1 of...
متن کاملComparison of Postural Control Between Different Age Groups of Girls With Intellectual Disability
Objective: The control ability different positions of body in space was due to interaction between neural, sensory, and muscle-skeletal systems, which is generally defined as postural control. Limitations in mobility: The prevalence of balance and gait problems is also high in persons with intellectual disabilities. Thus, the present research aimed to examine the effect of visual, proprioceptio...
متن کاملAltered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability
1 Department of Human Genetics, University of Michigan, Ann Arbor, MI, United States, 2 Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC, United States, 3 Molecular & Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI, United States, 4 Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, United States, 5 Department o...
متن کاملIntellectual disability associated with a homozygous missense mutation in THOC6
BACKGROUND We recently described a novel autosomal recessive neurodevelopmental disorder with intellectual disability in four patients from two related Hutterite families. Identity-by-descent mapping localized the gene to a 5.1 Mb region at chromosome 16p13.3 containing more than 170 known or predicted genes. The objective of this study was to identify the causative gene for this rare disorder....
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Nature Communications
سال: 2020
ISSN: 2041-1723
DOI: 10.1038/s41467-020-19205-x