Results 11 to 20 of about 45,554 (278)

SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability. [PDF]

Ann Neurol
Intellectual disability is often the outcome of neurodevelopmental disorders and is characterized by significant impairments in intellectual and adaptive functioning.
Roychaudhury A, Lee YR, Choi TI, Thomas MG, Khan TN, Yousaf H, Skinner C, Maconachie G, Crosier M, Horak H, Constantinescu CS, Kim TY, Lee KH, Kyung JJ, Wang T, Ku B, Chodirker BN, Hammer MF, Gottlob I, Norton WHJ, Gerlai R, Kim HG, Graziano C, Pippucci T, Iovino E, Montanari F, Severi G, Toro C, Boerkoel CF, Cha HS, Choi CY, Kim S, Yoon JH, Gilmore K, Vora NL, Davis EE, Chudley AE, Schwartz CE, Kim CH.   +38 more
europepmc   +2 more sources

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms. [PDF]

Life Sci Alliance
This study uncovers mechanisms by which X-linked intellectual disability disorder 105 (#300984; OMIM) variants alter USP27X biology and function. Neurodevelopmental disorders with intellectual disability (ND/ID) are a heterogeneous group of diseases ...
Koch I, Slovik M, Zhang Y, Liu B, Rennie M, Konz E, Cogne B, Daana M, Davids L, Diets IJ, Gold NB, Holtz AM, Isidor B, Mor-Shaked H, Neira Fresneda J, Niederhoffer KY, Nizon M, Pfundt R, Simon M, Stegmann A, Guillen Sacoto MJ, Wevers M, Barakat TS, Yanovsky-Dagan S, Atanassov BS, Toth R, Gao C, Bustos F, Harel T.   +28 more
europepmc   +2 more sources

Novel Variations in the KDM5C Gene Causing X-Linked Intellectual Disability. [PDF]

Neurol Genet, 2022
Background and Objectives To investigate the pathogenicity of 2 novel KDM5C variations, report the clinical and neuroimaging findings, and review the available literature. Methods Physical examinations, structural neuroimaging studies, and exome sequence
Wu PM, Yu WH, Chiang CW, Wu CY, Chen JS, Tu YF.   +5 more
europepmc   +2 more sources

O-GlcNAc: Regulator of Signaling and Epigenetics Linked to X-linked Intellectual Disability [PDF]

Frontiers in Genetics, 2020
Cellular identity in multicellular organisms is maintained by characteristic transcriptional networks, nutrient consumption, energy production and metabolite utilization.
Daniel Konzman, Lara K. Abramowitz, Agata Steenackers, Mana Mohan Mukherjee, Hyun-Jin Na, John A. Hanover   +5 more
doaj   +2 more sources

Hippocampal Excitatory Synaptic Transmission and Plasticity Are Differentially Altered during Postnatal Development by Loss of the X-Linked Intellectual Disability Protein Oligophrenin-1. [PDF]

Cells, 2022
Oligophrenin-1 (OPHN1) is a Rho-GTPase-activating protein (RhoGAP), whose mutations are associated with X-linked intellectual disability (XLID). OPHN1 is enriched at the synapse in both pre- and postsynaptic compartments, where it regulates the RhoA/ROCK/
Cresto N, Lebrun N, Dumont F, Letourneur F, Billuart P, Rouach N.   +5 more
europepmc   +2 more sources

Eye movement defects in KO zebrafish reveals SRPK3 as a causative gene for an X-linked intellectual disability

Research Square, 2023
Intellectual disability (ID) is a common neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. X-linked ID (XLID) disorders, caused by defects in genes on the X chromosome, affect 1.7 out of 1,000 ...
Kim C, Lee Y, Thomas M, Roychaudhury A, Skinner C, Maconachie G, Crosier M, Horak H, Constantinescu C, Choi T, Kyung J, Wang T, Ku B, Chodirker B, Hammer M, Gottlob I, Norton W, Chudley A, Schwartz C.   +18 more
europepmc   +2 more sources

UBE2A-related X-linked intellectual disability. [PDF]

Clin Dysmorphol, 2019
UBE2A-related X-linked intellectual disability is characterized by a distinctive facial phenotype (dense eyebrows and eyelashes, synophrys, hypertelorism, upslanted palpebral fissures, wide mouth, and thin lips), generalized hirsutism, hypoplastic genitalia, short stature, hypotonia, seizures, and severe intellectual ...
Stevenson RE, Chudley AE, Srivastava AK, Rodriguez J, Friez MJ, Schwartz CE.   +5 more
europepmc   +4 more sources

Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability. [PDF]

Proc Natl Acad Sci U S A, 2019
Significance Protein O-GlcNAcylation is a posttranslational modification essential for development. Recently, mutations in the O-GlcNAc transferase (OGT) substrate binding domain have been described that lead to intellectual disability, but the ...
Pravata VM, Muha V, Gundogdu M, Ferenbach AT, Kakade PS, Vandadi V, Wilmes AC, Borodkin VS, Joss S, Stavridis MP, van Aalten DMF.   +10 more
europepmc   +2 more sources

RNF12 X-Linked Intellectual Disability Mutations Disrupt E3 Ligase Activity and Neural Differentiation

Cell Reports, 2018
Summary: X-linked intellectual disability (XLID) is a heterogeneous syndrome affecting mainly males. Human genetics has identified >100 XLID genes, although the molecular and developmental mechanisms underpinning this disorder remain unclear.
Francisco Bustos, Anna Segarra-Fas, Viduth K. Chaugule, Lennart Brandenburg, Emma Branigan, Rachel Toth, Thomas Macartney, Axel Knebel, Ronald T. Hay, Helen Walden, Greg M. Findlay   +10 more
doaj   +2 more sources

The X-Linked Intellectual Disability Gene Zdhhc9 Is Essential for Dendrite Outgrowth and Inhibitory Synapse Formation

Cell Reports, 2019
Summary: Palmitoylation is a reversible post-translational lipid modification that facilitates vesicular transport and subcellular localization of modified proteins.
Jordan J. Shimell, Bhavin S. Shah, Stuart M. Cain, Samrat Thouta, Naila Kuhlmann, Igor Tatarnikov, D. Blair Jovellar, G. Stefano Brigidi, Jennifer Kass, Austen J. Milnerwood, Terrance P. Snutch, Shernaz X. Bamji   +11 more
doaj   +2 more sources