Literature DB >> 33215285

Overlapping Molecular Pathways Leading to Autism Spectrum Disorders, Fragile X Syndrome, and Targeted Treatments.

Maria Jimena Salcedo-Arellano1,2,3, Ana Maria Cabal-Herrera4, Ruchi Harendra Punatar5,6, Courtney Jessica Clark5,6, Christopher Allen Romney5,6, Randi J Hagerman7,8.   

Abstract

Autism spectrum disorders (ASD) are subdivided into idiopathic (unknown) etiology and secondary, based on known etiology. There are hundreds of causes of ASD and most of them are genetic in origin or related to the interplay of genetic etiology and environmental toxicology. Approximately 30 to 50% of the etiologies can be identified when using a combination of available genetic testing. Many of these gene mutations are either core components of the Wnt signaling pathway or their modulators. The full mutation of the fragile X mental retardation 1 (FMR1) gene leads to fragile X syndrome (FXS), the most common cause of monogenic origin of ASD, accounting for ~ 2% of the cases. There is an overlap of molecular mechanisms in those with idiopathic ASD and those with FXS, an interaction between various signaling pathways is suggested during the development of the autistic brain. This review summarizes the cross talk between neurobiological pathways found in ASD and FXS. These signaling pathways are currently under evaluation to target specific treatments in search of the reversal of the molecular abnormalities found in both idiopathic ASD and FXS.

Entities:  

Keywords:  Autism spectrum disorders; ERK/MAPK; Wnt; endocannabinoid system; fragile X syndrome; mTOR; neurodevelopmental disorders; retinoic acid; signaling cross talk; targeted treatments

Mesh:

Substances:

Year:  2020        PMID: 33215285      PMCID: PMC8116395          DOI: 10.1007/s13311-020-00968-6

Source DB:  PubMed          Journal:  Neurotherapeutics        ISSN: 1878-7479            Impact factor:   7.620


  222 in total

1.  Characterizing Sleep in Adolescents and Adults with Autism Spectrum Disorders.

Authors:  S E Goldman; M L Alder; H J Burgess; B A Corbett; R Hundley; D Wofford; D B Fawkes; L Wang; M L Laudenslager; B A Malow
Journal:  J Autism Dev Disord       Date:  2017-06

2.  An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.

Authors:  Donna M Werling; Harrison Brand; Joon-Yong An; Matthew R Stone; Lingxue Zhu; Joseph T Glessner; Ryan L Collins; Shan Dong; Ryan M Layer; Eirene Markenscoff-Papadimitriou; Andrew Farrell; Grace B Schwartz; Harold Z Wang; Benjamin B Currall; Xuefang Zhao; Jeanselle Dea; Clif Duhn; Carolyn A Erdman; Michael C Gilson; Rachita Yadav; Robert E Handsaker; Seva Kashin; Lambertus Klei; Jeffrey D Mandell; Tomasz J Nowakowski; Yuwen Liu; Sirisha Pochareddy; Louw Smith; Michael F Walker; Matthew J Waterman; Xin He; Arnold R Kriegstein; John L Rubenstein; Nenad Sestan; Steven A McCarroll; Benjamin M Neale; Hilary Coon; A Jeremy Willsey; Joseph D Buxbaum; Mark J Daly; Matthew W State; Aaron R Quinlan; Gabor T Marth; Kathryn Roeder; Bernie Devlin; Michael E Talkowski; Stephan J Sanders
Journal:  Nat Genet       Date:  2018-04-26       Impact factor: 38.330

3.  Anxiety and depression in adults with autism spectrum disorder: a systematic review and meta-analysis.

Authors:  Matthew J Hollocks; Jian Wei Lerh; Iliana Magiati; Richard Meiser-Stedman; Traolach S Brugha
Journal:  Psychol Med       Date:  2018-09-04       Impact factor: 7.723

4.  Patterns of growth in verbal abilities among children with autism spectrum disorder.

Authors:  Deborah K Anderson; Catherine Lord; Susan Risi; Pamela S DiLavore; Cory Shulman; Audrey Thurm; Kathleen Welch; Andrew Pickles
Journal:  J Consult Clin Psychol       Date:  2007-08

5.  Patterns of growth in adaptive social abilities among children with autism spectrum disorders.

Authors:  Deborah K Anderson; Rosalind S Oti; Catherine Lord; Kathleen Welch
Journal:  J Abnorm Child Psychol       Date:  2009-10

6.  A review of the evidence for the canonical Wnt pathway in autism spectrum disorders.

Authors:  Hans Otto Kalkman
Journal:  Mol Autism       Date:  2012-10-19       Impact factor: 7.509

Review 7.  The Wnt Signaling Pathway and Related Therapeutic Drugs in Autism Spectrum Disorder.

Authors:  Seung Min Bae; Ji Yeon Hong
Journal:  Clin Psychopharmacol Neurosci       Date:  2018-05-31       Impact factor: 2.582

Review 8.  De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application.

Authors:  Weidi Wang; Roser Corominas; Guan Ning Lin
Journal:  Front Genet       Date:  2019-04-03       Impact factor: 4.599

9.  Editorial: Secondary vs. Idiopathic Autism.

Authors:  Manuel F Casanova; Emily L Casanova; Richard Eugene Frye; Carolina Baeza-Velasco; Janine M LaSalle; Randi Jensen Hagerman; Stephen W Scherer; Marvin R Natowicz
Journal:  Front Psychiatry       Date:  2020-04-14       Impact factor: 4.157

Review 10.  Autism spectrum disorder at the crossroad between genes and environment: contributions, convergences, and interactions in ASD developmental pathophysiology.

Authors:  Cristina Cheroni; Nicolò Caporale; Giuseppe Testa
Journal:  Mol Autism       Date:  2020-09-10       Impact factor: 7.509

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  5 in total

1.  Retinoic Acid Supplementation Rescues the Social Deficits in Fmr1 Knockout Mice.

Authors:  Liqin Yang; Zhixiong Xia; Jianhua Feng; Menghuan Zhang; Pu Miao; Yingjie Nie; Xiangyan Zhang; Zijian Hao; Ronggui Hu
Journal:  Front Genet       Date:  2022-06-17       Impact factor: 4.772

Review 2.  Fragile X Syndrome: From Molecular Aspect to Clinical Treatment.

Authors:  Dragana D Protic; Ramkumar Aishworiya; Maria Jimena Salcedo-Arellano; Si Jie Tang; Jelena Milisavljevic; Filip Mitrovic; Randi J Hagerman; Dejan B Budimirovic
Journal:  Int J Mol Sci       Date:  2022-02-09       Impact factor: 5.923

3.  FMRP modulates the Wnt signalling pathway in glioblastoma.

Authors:  Mariachiara Buccarelli; Fabrizio Bianchi; Giorgia Pedini; Laura Pacini; Giulia Cencelli; Quintino Giorgio D'Alessandris; Maurizio Martini; Stefano Giannetti; Franceschina Sasso; Valentina Melocchi; Maria Giulia Farace; Tilmann Achsel; Luigi M Larocca; Lucia Ricci-Vitiani; Roberto Pallini; Claudia Bagni
Journal:  Cell Death Dis       Date:  2022-08-18       Impact factor: 9.685

Review 4.  Local Translation in Nervous System Pathologies.

Authors:  María Gamarra; Aida de la Cruz; Maite Blanco-Urrejola; Jimena Baleriola
Journal:  Front Integr Neurosci       Date:  2021-06-29

Review 5.  RNA Localization and Local Translation in Glia in Neurological and Neurodegenerative Diseases: Lessons from Neurons.

Authors:  Maite Blanco-Urrejola; Adhara Gaminde-Blasco; María Gamarra; Aida de la Cruz; Elena Vecino; Elena Alberdi; Jimena Baleriola
Journal:  Cells       Date:  2021-03-12       Impact factor: 6.600

  5 in total

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