Neuropsychopathology of autism spectrum disorder: complex interplay of genetic, epigenetic, and environmental factors

R Bhandari, JK Paliwal, A Kuhad - … food intervention and therapy for autism …, 2020 - Springer
Autism spectrum disorder (ASD) is a complex heterogeneous consortium of pervasive
development disorders (PDD) which ranges from atypical autism, autism, and Asperger …

Targeting mTOR for fighting diseases: A revisited review of mTOR inhibitors

T Xu, D Sun, Y Chen, L Ouyang - European journal of medicinal chemistry, 2020 - Elsevier
Abstract mTOR (mammalian target of rapamycin), which is a serine/threonine kinase, has
been well-established as being closely correlated with the occurrence of various human …

Cerebral organoid and mouse models reveal a RAB39b–PI3K–mTOR pathway-dependent dysregulation of cortical development leading to macrocephaly/autism …

W Zhang, L Ma, M Yang, Q Shao, J Xu… - Genes & …, 2020 - genesdev.cshlp.org
Dysregulation of early neurodevelopment is implicated in macrocephaly/autism disorders.
However, the mechanism underlying this dysregulation, particularly in human cells, remains …

Disruption of mTOR and MAPK pathways correlates with severity in idiopathic autism

E Rosina, B Battan, M Siracusano, L Di Criscio… - Translational …, 2019 - nature.com
The molecular signature underlying autism spectrum disorder remains largely unknown.
This study identifies differential expression of mTOR and MAPK pathways in patients …

PIK3CA gain-of-function mutation in adipose tissue induces metabolic reprogramming with Warburg-like effect and severe endocrine disruption

S Ladraa, L Zerbib, C Bayard, A Fraissenon… - Science …, 2022 - science.org
PIK3CA-related overgrowth syndrome (PROS) is a genetic disorder caused by somatic
mosaic gain-of-function mutations of PIK3CA. Clinical presentation of patients is diverse and …

Proteomic phenotype of cerebral organoids derived from autism spectrum disorder patients reveal disrupted energy metabolism, cellular components, and biological …

M Ilieva, BI Aldana, KT Vinten, S Hohmann… - Molecular …, 2022 - nature.com
The way in which brain morphology and proteome are remodeled during embryonal
development, and how they are linked to the cellular metabolism, could be a key for …

The gut-immune-brain axis in autism spectrum disorders; a focus on amino acids

JHJ van Sadelhoff, P Perez Pardo, J Wu… - Frontiers in …, 2019 - frontiersin.org
Autism spectrum disorder (ASD) is a range of neurodevelopmental conditions that affect
communication and social behavior. Besides social deficits, systemic inflammation …

BDNF, proBDNF and IGF-1 serum levels in naïve and medicated subjects with autism

MA Robinson-Agramonte, B Michalski… - Scientific Reports, 2022 - nature.com
Brain-derived neurotrophic factor (BDNF) and insulin-like growth factor 1 (IGF-1) promote
the development and maintenance of neural circuits. Alterations in these factors might …

[HTML][HTML] The role of PTEN in neurodevelopment

PD Skelton, RV Stan, BW Luikart - Molecular neuropsychiatry, 2019 - karger.com
PTEN is a lipid and protein phosphatase that regulates cell growth and survival. Mutations to
PTEN are highly penetrant for autism spectrum disorder (ASD). Here, we briefly review the …

NEGR1 and FGFR2 cooperatively regulate cortical development and core behaviours related to autism disorders in mice

J Szczurkowska, F Pischedda, B Pinto, F Manago… - Brain, 2018 - academic.oup.com
Autism spectrum disorders are neurodevelopmental conditions with diverse aetiologies, all
characterized by common core symptoms such as impaired social skills and communication …