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https://www.readbyqxmd.com/read/28940660/adnp-plays-a-key-role-in-autophagy-from-autism-to-schizophrenia-and-alzheimer-s-disease
#1
REVIEW
Shlomo Sragovich, Avia Merenlender-Wagner, Illana Gozes
Activity-dependent neuroprotective protein (ADNP), discovered in our laboratory in 1999, has been characterized as a master gene vital for mammalian brain formation. ADNP de novo mutations in humans result in a syndromic form of autism-like spectrum disorder (ASD), including cognitive and motor deficits, the ADNP syndrome (Helsmoortel-Van Der Aa). One of the most important cellular processes associated with ADNP is the autophagy pathway, recently discovered by us as a key player in the pathophysiology of schizophrenia...
September 21, 2017: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/28807863/prenatal-diagnosis-of-complex-phenotype-in-a-13-week-old-fetus-with-an-interstitial-multigene-deletion-20q13-13-q13-2-by-chromosomal-microarray
#2
Feodora Stipoljev, Danka Miric-Tesanic, Tomislav Hafner, Maja Barbalic, Monika Logara, Ruzica Lasan-Trcic, Ana Vicic, Romana Gjergja-Juraski
We report the first trimester three-dimensional ultrasonographic findings in a 13-week-old fetus with complex phenotype and a de novo 4.7 Mb multigene deletion encompassing chromosome region 20q13.13-q13.2 detected by chromosomal microarray. Fetal sonography detected radial-ray anomalies in the form of bilateral absence of thumbs and the left club hand deformity. The presence of single atrioventricular canal instead of the atrial septal defect typical for Holt-Oram syndrome pointed us to rather suspect the SALL4 related diseases...
August 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28724549/identification-of-new-tumor-suppressor-genes-in-triple-negative-breast-cancer
#3
Roberto Rangel, Liliana Guzman-Rojas, Takahiro Kodama, Michiko Kodama, Justin Y Newberg, Neal G Copeland, Nancy A Jenkins
Although genomic sequencing has provided a better understating of the genetic landmarks in triple-negative breast cancer (TNBC), functional validation of candidate cancer genes (CCG) remains unsolved. In this study, we used a transposon mutagenesis strategy based on a two-step Sleeping Beauty (SB) forward genetic screen to identify and validate new tumor suppressors (TS) in this disease. We generated 120 siRNAs targeting 40 SB-identified candidate breast cancer TS genes and used them to downregulate expression of these genes in four human TNBC cell lines...
July 19, 2017: Cancer Research
https://www.readbyqxmd.com/read/28675391/premature-primary-tooth-eruption-in-cognitive-motor-delayed-adnp-mutated-children
#4
I Gozes, A Van Dijck, G Hacohen-Kleiman, I Grigg, G Karmon, E Giladi, M Eger, Y Gabet, M Pasmanik-Chor, E Cappuyns, O Elpeleg, R F Kooy, S Bedrosian-Sermone
This corrects the article DOI: 10.1038/tp.2017.27.
July 4, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28579975/the-eight-and-a-half-year-journey-of-undiagnosed-ad-gene-sequencing-and-funding-of-advanced-genetic-testing-has-led-to-hope-and-new-beginnings
#5
Illana Gozes, Marc C Patterson, Anke Van Dijck, R Frank Kooy, Joseph N Peeden, Jacob A Eichenberger, Angela Zawacki-Downing, Sandra Bedrosian-Sermone
BACKGROUND: Activity-dependent neuroprotective protein (ADNP) is one of the most prevalent de novo mutated genes in syndromic autism spectrum disorders, driving a general interest in the gene and the syndrome. AIM: The aim of this study was to provide a detailed developmental case study of ADNP p.Tyr719* mutation toward improvements in (1) diagnostic procedures, (2) phenotypic scope, and (3) interventions. METHODS: Longitudinal clinical and parental reports...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28544734/cover-image-volume-173a-number-6-june-2017
#6
Toshiki Takenouchi, Tomoru Miwa, Yoshiaki Sakamoto, Yuri Sakaguchi, Tomoko Uehara, Takao Takahashi, Kenjiro Kosaki
The cover image, by Toshiki Takenouchi et al., is based on the Clinical Report Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene, DOI: 10.1002/ajmg.a.38126.
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28480925/a-melt-castable-energetic-cocrystal
#7
Jonathan C Bennion, Zohaib R Siddiqi, Adam J Matzger
An energetic cocrystal is described between 3,4-diaminofurazan (DAF) and 4-amino-3,5-dinitropyrazole (ADNP). The material is remarkable because interaction between the components leads to melting behavior and melt-state stabilization (absent in ADNP), that allows a melt castable formulation with explosive performance superior to DAF. This provides another potential advantage of cocrystallization for energetic materials.
June 1, 2017: Chemical Communications: Chem Comm
https://www.readbyqxmd.com/read/28475273/novel-features-of-helsmoortel-van-der-aa-adnp-syndrome-in-a-boy-with-a-known-pathogenic-mutation-in-the-adnp-gene-detected-by-exome-sequencing
#8
Chumei Li, Yongdong Wang, Marta Szybowska
No abstract text is available yet for this article.
May 5, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28436035/nap-counteracts-hyperglycemia-hypoxia-induced-retinal-pigment-epithelial-barrier-breakdown-through-modulation-of-hifs-and-vegf-expression
#9
Agata Grazia D'Amico, Grazia Maugeri, Daniela Maria Rasà, Valentina La Cognata, Salvatore Saccone, Concetta Federico, Sebastiano Cavallaro, Velia D'Agata
Diabetic macular edema (DME) is a common complication leading to a central vision loss in patients with diabetes. In this eye pathology, the hyperglycaemic/hypoxic microenvironment of pigmented epithelium is responsible for outer blood retinal barrier integrity changes. More recently, we have shown that a small peptide derived from the activity-dependent neuroprotective protein (ADNP), known as NAP, counteracts damages occurring during progression of diabetic retinopathy by modulating HIFs/VEGF pathway. Here, we have investigated for the first time the role of this peptide on outer blood retinal barrier (BRB) integrity exposed to hyperglycaemic/hypoxic insult mimicking a model in vitro of DME...
April 24, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28407407/further-evidence-that-a-blepharophimosis-syndrome-phenotype-is-associated-with-a-specific-class-of-mutation-in-the-adnp-gene
#10
Toshiki Takenouchi, Tomoru Miwa, Yoshiaki Sakamoto, Yuri Sakaguchi, Tomoko Uehara, Takao Takahashi, Kenjiro Kosaki
Heterozygous truncating mutations in ADNP are associated with a syndromic form of intellectual disability known as Helsmoortel-van der Aa syndrome. Among 17 previously reported patients with Helsmoortel-van der Aa syndrome, one patient exhibited blepharophimosis. Whether blepharophimosis represents a phenotypic expression of the ADNP mutation spectrum or a chance association remains unclear. Herein, we report another patient with a de novo truncating mutation in ADNP who exhibited a combination of blepharophimosis and epicanthal folds...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28304301/modeling-the-relationships-among-late-life-body-mass-index-cerebrovascular-disease-and-alzheimer-s-disease-neuropathology-in-an-autopsy-sample-of-1-421-subjects-from-the-national-alzheimer-s-coordinating-center-data-set
#11
Michael L Alosco, Jonathan Duskin, Lilah M Besser, Brett Martin, Christine E Chaisson, John Gunstad, Neil W Kowall, Ann C McKee, Robert A Stern, Yorghos Tripodis
The relationship between late-life body mass index (BMI) and Alzheimer's disease (AD) is poorly understood due to the lack of research in samples with autopsy-confirmed AD neuropathology (ADNP). The role of cerebrovascular disease (CVD) in the interplay between late-life BMI and ADNP is unclear. We conducted a retrospective longitudinal investigation and used joint modeling of linear mixed effects to investigate causal relationships among repeated antemortem BMI measurements, CVD (quantified neuropathologically), and ADNP in an autopsy sample of subjects across the AD clinical continuum...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28257938/davunetide-improves-spatial-learning-and-memory-in-alzheimer-s-disease-associated-rats
#12
Jun Zhang, Shu-Yu Wei, Li Yuan, Lin-Lin Kong, Sheng-Xiao Zhang, Zhao-Jun Wang, Mei-Na Wu, Jin-Shun Qi
Memory loss and cognition decline are the main clinical manifestations of Alzheimer's disease (AD). Amyloid β protein (Aβ) aggregated in the brain is one of the key pathological characteristics of AD and responsible for the deficits in learning and memory. It is reported that davunetide, an octapeptide derived from activity-dependent neuroprotective protein (ADNP), inhibited Aβ aggregation and Aβ-induced neurotoxicity. To further characterize the neuroprotective roles of davunetide and its possible mechanism, the present study investigated the effects of davunetide on Aβ1-42-induced impairments in spatial memory, synaptic plasticity and hippocampal AKT level...
February 28, 2017: Physiology & Behavior
https://www.readbyqxmd.com/read/28221363/premature-primary-tooth-eruption-in-cognitive-motor-delayed-adnp-mutated-children
#13
I Gozes, A Van Dijck, G Hacohen-Kleiman, I Grigg, G Karmon, E Giladi, M Eger, Y Gabet, M Pasmanik-Chor, E Cappuyns, O Elpeleg, R F Kooy, S Bedrosian-Sermone
A major flaw in autism spectrum disorder (ASD) management is late diagnosis. Activity-dependent neuroprotective protein (ADNP) is a most frequent de novo mutated ASD-related gene. Functionally, ADNP protects nerve cells against electrical blockade. In mice, complete Adnp deficiency results in dysregulation of over 400 genes and failure to form a brain. Adnp haploinsufficiency results in cognitive and social deficiencies coupled to sex- and age-dependent deficits in the key microtubule and ion channel pathways...
February 21, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28219017/interaction-between-fmdv-l-pro-and-transcription-factor-adnp-is-required-for-optimal-viral-replication
#14
Gisselle N Medina, Giselle M Knudsen, Alexander L Greninger, Anna Kloc, Fayna Díaz-San Segundo, Elizabeth Rieder, Marvin J Grubman, Joseph L DeRisi, Teresa de Los Santos
The foot-and-mouth disease virus (FMDV) leader protease (L(pro)) inhibits host translation and transcription affecting the expression of several factors involved in innate immunity. In this study, we have identified the host transcription factor ADNP (activity dependent neuroprotective protein) as an L(pro) interacting protein by mass spectrometry. We show that L(pro) can bind to ADNP in vitro and in cell culture. RNAi of ADNP negatively affected virus replication and higher levels of interferon (IFN) and IFN-stimulated gene expression were detected...
May 2017: Virology
https://www.readbyqxmd.com/read/28115743/adnp-nap-dramatically-increase-microtubule-end-binding-protein-tau-interaction-a-novel-avenue-for-protection-against-tauopathy
#15
Y Ivashko-Pachima, C Laura Sayas, A Malishkevich, I Gozes
Activity-dependent neuroprotective protein (ADNP), vital for brain formation and cognitive function, is mutated in autism and linked to neurodegenerative/psychiatric diseases. An eight-amino-acid peptide snippet of ADNP, NAP (NAPVSIPQ), identified as a smallest active fragment, includes the SxIP microtubule (MT) end-binding protein (EB) association motif, and enhances ADNP-EB3 interaction. Depletion of EB1 or EB3 abolishes NAP protection against zinc intoxication. Furthermore, NAP enhances Tau-MT interaction, and Tau regulates the localization and function of EB1 and EB3 in developing neuronal cells...
September 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/27903678/adnp-is-a-therapeutically-inducible-repressor-of-wnt-signaling-in-colorectal-cancer
#16
Cristina Blaj, Agnes Bringmann, Eva Marina Schmidt, Manuela Urbischek, Sebastian Lamprecht, Thomas Fröhlich, Georg J Arnold, Stefan Krebs, Helmut Blum, Heiko Hermeking, Andreas Jung, Thomas Kirchner, David Horst
Purpose: Constitutively active WNT signaling is a hallmark of colorectal cancers and a driver of malignant tumor progression. Therapeutic targeting of WNT signaling is difficult due to high pathway complexity and its role in tissue homeostasis. Here, we identify the transcription factor ADNP as a pharmacologically inducible repressor of WNT signaling in colon cancer. Experimental Design: We used transcriptomic, proteomic, and in situ analyses to identify ADNP expression in colorectal cancer and cell biology approaches to determine its function...
November 30, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/27870939/mixed-neuropathologies-and-estimated-rates-of-clinical-progression-in-a-large-autopsy-sample
#17
Willa D Brenowitz, Rebecca A Hubbard, C Dirk Keene, Stephen E Hawes, W T Longstreth, Randy L Woltjer, Walter A Kukull
INTRODUCTION: Whether co-occurring neuropathologies interact or independently affect clinical disease progression is uncertain. We estimated rates of clinical progression and tested whether associations between clinical progression and Alzheimer's disease neuropathology (ADNP) were modified by co-occurring Lewy body disease (LBD) or vascular brain injury (VBI). METHODS: Linear mixed effects models evaluated longitudinal trends in the Clinical Dementia Rating Scale Sum of Boxes on 2046 autopsied participants seen at a U...
June 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/27870441/sexual-divergence-in-activity-dependent-neuroprotective-protein-impacting-autism-schizophrenia-and-alzheimer-s-disease
#18
REVIEW
Illana Gozes
Discovered in our laboratory, activity-dependent neuroprotective protein (ADNP) interacts with key regulatory proteins, including the chromatin remodeling complex SWI/SNF, proteins associated with RNA splicing, RNA translation, microtubule dynamics, and autophagy. ADNP regulates > 400 genes during mouse embryonic development and is essential for neural tube closure. ADNP key functions extend from mice to men, with mutations causing ADNP-related ID/autism syndrome, also known as the Helsmoortel-Van der Aa syndrome...
January 2, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/27866262/impairment-of-mitochondria-dynamics-by-human-a53t-%C3%AE-synuclein-and-rescue-by-nap-davunetide-in-a-cell-model-for-parkinson-s-disease
#19
T Q Melo, K C van Zomeren, M F R Ferrari, H W G M Boddeke, J C V M Copray
The formation of oligomers and aggregates of overexpressed or mutant α-synuclein play a role in the degeneration of dopaminergic neurons in Parkinson's disease by causing dysfunction of mitochondria, reflected in their disturbed mobility and production of ROS. The mode of action and mechanisms underlying this mitochondrial impairment is still unclear. We have induced stable expression of wild-type, A30P or A53T α-synuclein in neuronally differentiated SH-SY5Y neuroblastoma cells and studied anterograde and retrograde mitochondrial trafficking in this cell model for Parkinson's disease...
March 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/27790361/a-systematic-variant-annotation-approach-for-ranking-genes-associated-with-autism-spectrum-disorders
#20
Eric Larsen, Idan Menashe, Mark N Ziats, Wayne Pereanu, Alan Packer, Sharmila Banerjee-Basu
BACKGROUND: The search for genetic factors underlying autism spectrum disorders (ASD) has led to the identification of hundreds of genes containing thousands of variants that differ in mode of inheritance, effect size, frequency, and function. A major challenge involves assessing the collective evidence in an unbiased, systematic manner for their functional relevance. METHODS: Here, we describe a scoring algorithm for prioritization of candidate genes based on the cumulative strength of evidence for each ASD-associated variant cataloged in AutDB (also known as SFARI Gene)...
2016: Molecular Autism
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