Results 41 to 50 of about 181,231 (346)

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

The evolving diagnostic and genetic landscapes of autism spectrum disorder

Frontiers in Genetics, 2016
The autism spectrum disorders (ASD) are a heterogeneous set of neurodevelopmental syndromes defined by impairments in verbal and non-verbal communication, restricted social interaction, and the presence of stereotyped patterns of behavior.
Mark Nicholas Ziats, Owen Murray Rennert
doaj   +1 more source

Temporal and Cell‐Specific Regulation of Synaptic Homeostasis by the Chromatin Remodeler Chd1

Advanced Science, EarlyView.
Chd1, the Drosophila homologue of mammalian CHD2 ‐ a gene linked to autism, epilepsy, and intellectual disability, is required for synaptic homeostatic plasticity. Chd1 in glia is necessary for the rapid induction of synaptic homeostasis, whereas Chd1 in motoneurons, muscle, and glia is critical for long‐term maintenance.
Danielle T. Morency, Tao Cui, Yimei Cai, Chloe Lok, Rachel E. Nokku, Ruoxian Huang, Grace L. Chu, Yumeng Xie, Saleem W. Abu‐Tayeh, Kaikai He, Chengjie Qiu, Junyi Wang, Paxton M. Paganelli, Ting Wang, Gabrielle Williams, Sreejith Nair, Huadong Pei, Dion K. Dickman, Stefano Vicini, Tingting Wang   +19 more
wiley   +1 more source

Memory, learning and language in autism spectrum disorder [PDF]

, 2018
Background and aims: The ‘dual-systems’ model of language acquisition has been used by Ullman and colleagues to explain patterns of strength and weakness in the language of higher-functioning people with autism spectrum disorder (ASD).
Bodison S., Boucher J., Bowler D., Fay W., Kim S. H., Mottron L., Prévost P., Tager-Flusberg H., Travers B. G., Wing L.   +9 more
core   +2 more sources

Paving the Way to Elucidate Hg's Role in Tumorigenesis

Advanced Science, EarlyView.
Tumorigenesis can result from diverse environmental carcinogens. Among them, mercury—a lifelong bioaccumulative Group 2B carcinogen—has tumorigenic potential that remains poorly understood due to confounding co‐exposures and limited organ‐specific data.
Shouying Li, Rong Zhong, Zhenyang Yu, Hualing Fu, Jin Chen, Jia Wei, Ningwei Zhao, Le Qu, Tiantian Li, Wenli Tang, Huan Zhong   +10 more
wiley   +1 more source

Exploring sensory phenotypes in autism spectrum disorder

Molecular Autism, 2021
Background Atypical reactions to the sensory environment are often reported in autistic individuals, with a high degree of variability across the sensory modalities. These sensory differences have been shown to promote challenging behaviours and distress
Nichole E. Scheerer, Kristina Curcin, Bobby Stojanoski, Evdokia Anagnostou, Rob Nicolson, Elizabeth Kelley, Stelios Georgiades, Xudong Liu, Ryan A. Stevenson   +8 more
doaj   +1 more source

Autism and Communication: A Phenomenology of Parents’ Perspectives [PDF]

, 2018
Autism spectrum disorders (ASD) are characterized by language impairments and are often treated with a variety of communication interventions. In addition to these interventions, the parents of autistic children have to learn how to care for and ...
Sargent, Zoe
core   +1 more source

Elevated glutamatergic compounds in pregenual anterior cingulate in pediatric autism spectrum disorder demonstrated by 1H MRS and 1H MRSI. [PDF]

, 2012
Recent research in autism spectrum disorder (ASD) has aroused interest in anterior cingulate cortex and in the neurometabolite glutamate. We report two studies of pregenual anterior cingulate cortex (pACC) in pediatric ASD.
Alger, Jeffry R, Bejjani, Anthony, Frew, Andrew J, Kim, John A, Kitchen, Christina, Levitt, Jennifer G, Ly, Ronald, McCracken, James T, O'Neill, Joseph, Salamon, Noriko, Toga, Arthur W, Yee, Victor W   +11 more
core   +2 more sources

Intervention for autistic spectrum disorders [PDF]

NeuroRX, 2006
A comprehensive approach to the assessment of any child with autism must be matched specifically to each individual child and family. This premise holds for medical therapies and special education services as well as psychopharmacologic interventions.
Pauline A, Filipek, Robin, Steinberg-Epstein, Teri M, Book   +2 more
openaire   +2 more sources

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source