Fragile X Syndrome

Fragile X syndrome is caused by an expanded CGG repeat (> 200 repeats) in the 5' untranslated portion of the fragile mental retardation 1 gene (FMR1) within the X chromosome, leading to deficiency of fragile X mental retardation protein (FMRP). It is cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. Intellectual disability occurs in nearly all males and roughly 50% of females with the full mutation. Discover the latest research on Fragile X syndrome here.

October 22, 2020
Preprint
Open Access

Selective role of the translin/trax RNase complex in hippocampal synaptic plasticity

ResearchSquare
Alan Jung ParkTed Abel
October 27, 2020
Open Access

Decreased FMR1 mRNA levels found in men with substance use disorders

Heliyon
Maria KrastevaBoryan Andreev
September 23, 2020
Open Access

Facilitating individuals and families affected by fragile X syndrome to participate in medication trials

Journal of Intellectual Disability Research : JIDR
S E A EleyA C Stanfield
October 23, 2020
Preprint
Open Access

Increased aperiodic gamma power in young boys with Fragile X Syndrome is associated with better language ability

ResearchSquare
Carol L Wilkinson, C. A. Nelson
September 28, 2020
Preprint
Open Access

Drug REpurposing using AI/ML tools - for Rare Diseases (DREAM-RD): A case study with Fragile X Syndrome (FXS)

BioRxiv : the Preprint Server for Biology
K. Agastheeswaramoorthy, Aarti Sevilimedu
September 24, 2020
Open Access

Replication Stress Induces Global Chromosome Breakage in the Fragile X Genome

Cell Reports
Arijita ChakrabortyWenyi Feng
October 22, 2020

Interregulation between Fragile X Mental Retardation Protein and Methyl CpG Binding Protein 2 in the Mouse Posterior Cerebral Cortex

Human Molecular Genetics
Jason ArsenaultDavid R Hampson
September 20, 2020
Review
Open Access

New Era of Diacylglycerol Kinase, Phosphatidic Acid and Phosphatidic Acid-Binding Protein

International Journal of Molecular Sciences
Fumio SakaneChiaki Murakami
October 23, 2020
Open Access

The Fragile X Mental Retardation Protein regulates RIP1K and colorectal cancer resistance to necroptosis

Cellular and Molecular Gastroenterology and Hepatology
Antonio Di GraziaIvan Monteleone
September 26, 2020
Open Access

FMR1 loss in a human stem cell model reveals early changes to intrinsic membrane excitability

Developmental Biology
Sara G SuscoLindy E Barrett
October 13, 2020
Preprint
Open Access

Increased aperiodic gamma power in young boys with Fragile X is associated with better language ability

MedRxiv : the Preprint Server for Health Sciences
Carol L Wilkinson, C. A. Nelson
October 24, 2020
Open Access

Chronic bryostatin-1 rescues autistic and cognitive phenotypes in the fragile X mice

Scientific Reports
Patricia CogramMichael Tranfaglia
October 23, 2020
Open Access

DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome

International Journal of Molecular Sciences
Claudine M KraanDavid E Godler
September 29, 2020

The effect of fecal microbiota transplantation on autistic-like behaviors in Fmr1 KO mice

Life Sciences
Nayeon GooJong Hoon Ryu
September 29, 2020
Open Access

Repurposing Fragile X Drugs to Inhibit SARS-CoV-2 Viral Reproduction

Frontiers in Cell and Developmental Biology
Cara J WestmarkYoshihiro Kawaoka
October 1, 2020
Open Access

Fragile X Mental Retardation Protein modulates somatic D-type K+ channels and action potential threshold in the mouse prefrontal cortex

Journal of Neurophysiology
Brian E Kalmbach, Darrin H Brager

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