Results 21 to 30 of about 1,305 (131)

A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study. [PDF]

Clin Epigenetics
Background The Helsmoortel-Van der Aa syndrome is an autosomal-dominant neurodevelopment disorder caused by heterozygous de novo variants in the Activity-Dependent Neuroprotective Protein (ADNP) gene, characterized by autism, intellectual disability ...
D'Incal CP, Van Dijck A, Annear DJ, Harutyunyan L, Elinck E, Dingemans AJM, de Vries BBA, Mateiu L, Meuwissen M, Jansen AC, Kooy RF.   +10 more
europepmc   +2 more sources

ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel–Van der Aa syndrome autopsy case

Acta Neuropathologica Communications
Background Helsmoortel–Van der Aa syndrome is a neurodevelopmental disorder in which patients present with autism, intellectual disability, and frequent extra-neurological features such as feeding and gastrointestinal problems, visual impairments, and ...
Claudio D’Incal, Anke Van Dijck, Joe Ibrahim, Kevin De Man, Lina Bastini, Anthony Konings, Ellen Elinck, Claudia Theys, Illana Gozes, Zlatko Marusic, Mirna Anicic, Jurica Vukovic, Nathalie Van der Aa, Ligia Mateiu, Wim Vanden Berghe, R. Frank Kooy   +15 more
doaj   +4 more sources

ADNP Functions During Early Brain Development and Their Relevance to ASD and ADNP Syndrome. [PDF]

Int J Mol Sci
The Activity-Dependent Neuroprotective Protein (ADNP) is an important regulator of early brain development, especially during cortical neurogenesis and neurite formation. De novo point mutations or haploinsufficiency of the ADNP gene result in ADNP syndrome, which is also known as Helsmoortel-Van der Aa syndrome, a complex neurodevelopmental disorder ...
Liu X, Watanabe S, Coleman S, Shih V, Telfer WR, Kansagra VD, Drak L, Pesaladinne LR, Kim D, Sudan S, Singhal A, Toyo-Oka K.   +11 more
europepmc   +2 more sources

Aging ADNP syndrome mice exhibit mutation/sex-dependent disruption of motor behavior and circadian rhythmicity

Neurobiology of Disease
Circadian disruption is an early and clinically relevant feature of Alzheimer's disease and related neurodegenerative conditions, yet the molecular determinants underlying its emergence remain incompletely understood.
Artur Galushkin, Eliezer Giladi, Illana Gozes   +2 more
doaj   +2 more sources

Cellular and animal models of skin alterations in the autism-related ADNP syndrome. [PDF]

Sci Rep, 2019
AbstractMutations in ADNP have been recently associated with intellectual disability and autism spectrum disorder. However, the clinical features of patients with this syndrome are not fully identified, and no treatment currently exists for these patients.
Mollinedo P, Kapitansky O, Gonzalez-Lamuño D, Zaslavsky A, Real P, Gozes I, Gandarillas A, Fernandez-Luna JL.   +7 more
europepmc   +6 more sources

ADNP Controls Gene Expression Through Local Chromatin Architecture by Association With BRG1 and CHD4

Frontiers in Cell and Developmental Biology, 2020
ADNP (Activity Dependent Neuroprotective Protein) is proposed as a neuroprotective protein whose aberrant expression has been frequently linked to rare neural developmental disorders and cancers, including the recently described neurodevelopmental ...
XiaoYun Sun, WenJun Yu, Li Li, YuHua Sun, YuHua Sun   +4 more
doaj   +1 more source

Single Cell ADNP Predictive of Human Muscle Disorders: Mouse Knockdown Results in Muscle Wasting

Cells, 2020
Activity-dependent neuroprotective protein (ADNP) mutations are linked with cognitive dysfunctions characterizing the autistic-like ADNP syndrome patients, who also suffer from delayed motor maturation.
Oxana Kapitansky, Gidon Karmon, Shlomo Sragovich, Adva Hadar, Meishar Shahoha, Iman Jaljuli, Lior Bikovski, Eliezer Giladi, Robert Palovics, Tal Iram, Illana Gozes   +10 more
doaj   +1 more source

Episignatures stratifying ADNP syndrome show modest correlation with phenotype [PDF]

, 2020
Abstract ADNP syndrome, also known as Helsmoortel-van Der Aa syndrome, is a neurodevelopmental condition associated with intellectual disability/developmental delay, autism spectrum disorder, and multiple medical comorbidities. ADNP syndrome is caused by mutations in the activity-dependent neuroprotective protein (ADNP).
Breen, Michael S., Garg, Paras, Tang, Lara, Mendonca, Danielle, Levy, Tess, Barbosa, Mafalda, Arnett, Anne B, Kurtz-Nelson, Evangeline, Agolini, Emanuele, Battaglia, Agatino, Chiocchetti, Andreas G, Freitag, Christine M, Garcia-Alcon, Alicia, Grammatico, Paola, Hertz-Picciotto, Irva, Ludena-Rodriguez, Yunin, Moreno, Carmen, Novelli, Antonio, Parellada, Mara, Pascolini, Giulia, Tassone, Flora, Grice, Dorothy E, Bernier, Raphael A, Kolevzon, Alexander, Sharp, Andrew, Buxbaum, Joseph D, Siper, Paige M, De Rubeis, Silvia   +27 more
openaire   +1 more source

DYRK1A and Activity-Dependent Neuroprotective Protein Comparative Diagnosis Interest in Cerebrospinal Fluid and Plasma in the Context of Alzheimer-Related Cognitive Impairment in Down Syndrome Patients

Biomedicines, 2022
Down syndrome (DS) is a complex genetic condition due to an additional copy of human chromosome 21, which results in the deregulation of many genes. In addition to the intellectual disability associated with DS, adults with DS also have an ultrahigh risk
Manon Moreau, Maria Carmona-Iragui, Miren Altuna, Lorraine Dalzon, Isabel Barroeta, Marie Vilaire, Sophie Durand, Juan Fortea, Anne-Sophie Rebillat, Nathalie Janel   +9 more
doaj   +1 more source

GENYOi004-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with autism-related ADNP syndrome carrying a pTyr719* mutation

Stem Cell Research, 2019
ADNP syndrome is an intellectual disability associated with Autism spectrum disorder caused by mutations in ADNP. We generated an iPSC line from an ADNP syndrome pediatric patient harboring the mutation p.Trp719* (GENYOi004-A).
Rosa Montes, Pilar Mollinedo, Sonia Perales, Domingo Gonzalez-Lamuño, Veronica Ramos-Mejía, Jose L. Fernandez-Luna, Pedro J. Real   +6 more
doaj   +1 more source