Results 1 to 10 of about 10,778,046 (183)

Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism [PDF]

Clinical Epigenetics, 2023
Background Individuals affected with autism often suffer additional co-morbidities such as intellectual disability. The genes contributing to autism cluster on a relatively limited number of cellular pathways, including chromatin remodeling.
Claudio Peter D’Incal, Kirsten Esther Van Rossem, Kevin De Man, Anthony Konings, Anke Van Dijck, Ludovico Rizzuti, Alessandro Vitriolo, Giuseppe Testa, Illana Gozes, Wim Vanden Berghe, R. Frank Kooy   +10 more
doaj   +5 more sources

Activity-Dependent Neuroprotective Protein (ADNP): An Overview of Its Role in the Eye. [PDF]

Int J Mol Sci, 2022
Vision is one of the dominant senses in humans and eye health is essential to ensure a good quality of life. Therefore, there is an urgent necessity to identify effective therapeutic candidates to reverse the progression of different ocular pathologies.
Maugeri G, D'Amico AG, Magrì B, Musumeci G, D'Agata V.   +4 more
europepmc   +5 more sources

Neuropeptide GPCRs in neuroendocrinology: The case of Activity-Dependent Neuroprotective Protein (ADNP) [PDF]

Frontiers in Endocrinology, 2012
VASOACTIVE INTESTINAL PEPTIDE (VIP): NEUROPROTECTION AND SYNAPSE FORMATION This review is a selected overview of the chosen subject. As, I have recently summarized my work on VIP (Gozes, 2008), I will describe here only selected topics focusing on the GPCR connection of the VIP-regulated protein, activity-dependent neuroprotective protein (ADNP) (Gozes,
Illana eGozes
doaj   +3 more sources

Activity-Dependent Neuroprotective Protein (ADNP)-Derived Peptide (NAP) Counteracts UV-B Radiation-Induced ROS Formation in Corneal Epithelium [PDF]

Antioxidants, 2022
The corneal epithelium, the outermost layer of the cornea, acts as a dynamic barrier preventing access to harmful agents into the intraocular space. It is subjected daily to different insults, and ultraviolet B (UV-B) irradiation represents one of the ...
Grazia Maugeri, Agata Grazia D’Amico, Salvatore Giunta, Cesarina Giallongo, Daniele Tibullo, Claudio Bucolo, Salvatore Saccone, Concetta Federico, Davide Scollo, Antonio Longo, Teresio Avitabile, Giuseppe Musumeci, Velia D’Agata   +12 more
doaj   +2 more sources

Activity-dependent neuroprotective protein (ADNP) derived peptide NAP prevents musculoskeletal abnormalities in ovariectomized mice [PDF]

Frontiers in Neuroscience
Estrogen is an essential hormone that critically impacts bodily and brain functions, supporting learning, memory, and motor activities. A decrease in estrogen levels is associated with cognitive decline and motor dysfunction, such as muscle weakness ...
Liri Sophia Guz, Artur Galushkin, Illana Gozes   +2 more
doaj   +2 more sources

Activity-dependent neuroprotective protein (ADNP): from autism to Alzheimer's disease. [PDF]

Springerplus, 2015
We have originally discovered activity-dependent neuroprotective protein (ADNP) as a major regulatory gene, a component of the SWI/SNF chromatin remodeling complex, essential for brain formation. Others found ADNP as a most frequent autism spectrum disorder (ASD)-associated gene.
Gozes I.
europepmc   +4 more sources

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

Clinical 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 ...
Claudio Peter D’Incal, Anke Van Dijck, Dale John Annear, Lusine Harutyunyan, Ellen Elinck, Alexander J. M. Dingemans, Bert B. A. de Vries, Ligia Mateiu, Marije Meuwissen, Anna C. Jansen, R. Frank Kooy   +10 more
doaj   +2 more sources

Alterations in Activity-Dependent Neuroprotective Protein in Sporadic and Experimental Parkinson’s Disease

Journal of Parkinson’s Disease, 2016
Background: Activity-dependent neuroprotective protein (ADNP) is essential for brain formation and neuronal survival. It is possible that intracellular alpha-synuclein ( α -syn) inclusions may be due to, or may cause, down-regulation of ADNP expression ...
Yaping Chu, Gerardo A. Morfini, Jeffrey H. Kordower   +2 more
doaj   +3 more sources

Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein. [PDF]

J Med Genet, 2014
Activity-dependent neuroprotective protein (ADNP) is a highly conserved transcription factor comprised of nine-zinc finger domains and a homeobox domain.1 ,2 It is highly expressed prenatally during critical stages of embryonic brain development.3 Knockout (KO) mouse embryos demonstrate severe neurodevelopmental morphological profiles.4 Although the ...
Pescosolido MF, Schwede M, Johnson Harrison A, Schmidt M, Gamsiz ED, Chen WS, Donahue JP, Shur N, Jerskey BA, Phornphutkul C, Morrow EM.   +10 more
europepmc   +4 more sources

Activity-dependent neuroprotective protein deficiency models synaptic and developmental phenotypes of autism-like syndrome. [PDF]

J Clin Invest, 2018
Previous findings showed that in mice, complete knockout of activity-dependent neuroprotective protein (ADNP) abolishes brain formation, while haploinsufficiency (Adnp+/-) causes cognitive impairments. We hypothesized that mutations in ADNP lead to a developmental/autistic syndrome in children.
Hacohen-Kleiman G, Sragovich S, Karmon G, Gao AYL, Grigg I, Pasmanik-Chor M, Le A, Korenková V, McKinney RA, Gozes I.   +9 more
europepmc   +5 more sources