Despite recent advances in understanding the molecular mechanisms of autism spectrum disorders (ASD), the current treatments for these disorders are mostly focused on behavioral and educational approaches. The considerable clinical and molecular heterogeneity of ASD present a significant challenge to the development of an effective treatment targeting underlying molecular defects. Deficiency of SHANK family genes causing ASD represent an exciting opportunity for developing molecular therapies because of strong genetic evidence for SHANK as causative genes in ASD and the availability of a panel of Shank mutant mouse models. In this article, we review the literature suggesting the potential for developing therapies based on molecular characteristics and discuss several exciting themes that are emerging from studying Shank mutant mice at the molecular level and in terms of synaptic function.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3883807 | PMC |
| http://dx.doi.org/10.1002/dneu.22084 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
In Vivo Evolution of a Klebsiella pneumoniae Capsule Defect With wcaJ Mutation Promotes Complement-Mediated Opsonophagocytosis During Recurrent Infection.
J Infect Dis
July 2024
Division of Pulmonary, Allergy, Critical Care, and Sleep Medicine, Department of Medicine, University of Pittsburgh.
Article Synopsis
- - The study focused on KPC-Kp bloodstream infections, which are deadly, and aimed to understand how these bacteria resist a key defense mechanism in our blood, called complement.
- - Researchers tested various KPC-Kp isolates from patients, discovering that 27% of them resisted killing by human serum; a specific gene mutation (wcaJ) linked to capsule production contributed to this resistance.
- - This mutation resulted in less capsule presence, paradoxically increasing the bacteria's ability to bind complement proteins while also improving their survival against immune responses, potentially allowing them to thrive in the bloodstream without being overly virulent in tissues.
Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes.
Cell Rep
July 2024
Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA; Neuroscience, Yale University School of Medicine, New Haven, CT 06520, USA; Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA. Electronic address:
Precision of transcription is critical because transcriptional dysregulation is disease causing. Traditional methods of transcriptional profiling are inadequate to elucidate the full spectrum of the transcriptome, particularly for longer and less abundant mRNAs. SHANK3 is one of the most common autism causative genes.
View Article and Find Full Text PDFCharacteristics of fluopicolide-resistance mutants in Phytophthora nicotianae, the pathogen causing black shank disease in tobacco.
Pestic Biochem Physiol
May 2024
State Key Laboratory for Crop Stress Resistance and High-Efficiency Production, College of Plant Protection, Northwest A&F University, 3 Taicheng Road, Yangling 712100, Shaanxi, China; Department of Plant Pathology, College of Plant Protection, China Agricultural University, 2 Yuanmingyuanxi Road, Beijing 100193, China. Electronic address:
Black shank, a devastating disease in tobacco production worldwide, is caused by the oomycete plant pathogen Phytophthora nicotianae. Fluopicolide is a pyridinylmethyl-benzamides fungicide with a unique mechanism of action and has been widely used for controlling a variety of oomycetes such as Plasmopara viticola, Phytophthora infestans, Pseudoperonospora cubensis, P. nicotianae and Bremia lactucae.
View Article and Find Full Text PDFTranscriptional Determinism and Stochasticity Contribute to the Complexity of Autism Associated Family Genes.
bioRxiv
March 2024
Department of Genetics, Yale University School of Medicine New Haven, CT, 06520 USA.
Precision of transcription is critical because transcriptional dysregulation is disease causing. Traditional methods of transcriptional profiling are inadequate to elucidate the full spectrum of the transcriptome, particularly for longer and less abundant mRNAs. is one of the most common autism causative genes.
View Article and Find Full Text PDFG2019S selective LRRK2 kinase inhibitor abrogates mitochondrial DNA damage.
NPJ Parkinsons Dis
March 2024
Departments of Neurology and Pathology, Duke University School of Medicine, Durham, NC, 27710, USA.
Pathogenic mutations in LRRK2 cause Parkinson's disease (PD). The G2019S variant is the most common, which results in abnormally high kinase activity. Compounds that target LRRK2 kinase activity are currently being developed and tested in clinical trials.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!