RNA-binding proteins in human genetic disease

KE Lukong, K Chang, EW Khandjian, S Richard - Trends in Genetics, 2008 - cell.com
RNA-binding proteins (RBPs) are key components in RNA metabolism, regulating the
temporal, spatial and functional dynamics of RNAs. Altering the expression of RBPs has …

Diseases of unstable repeat expansion: mechanisms and common principles

JR Gatchel, HY Zoghbi - Nature Reviews Genetics, 2005 - nature.com
The list of developmental and degenerative diseases that are caused by expansion of
unstable repeats continues to grow, and is now approaching 20 disorders. The pathogenic …

Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)

CM Greco, RF Berman, RM Martin, F Tassone… - Brain, 2006 - academic.oup.com
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative
disorder that affects carriers, principally males, of premutation alleles (55–200 CGG repeats) …

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

C Sellier, F Rau, Y Liu, F Tassone, RK Hukema… - The EMBO …, 2010 - embopress.org
Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is a neurodegenerative disorder
caused by expansion of 55–200 CGG repeats in the 5′‐UTR of the FMR1 gene. FXTAS is …

RNA-mediated neuromuscular disorders

LPW Ranum, TA Cooper - Annu. Rev. Neurosci., 2006 - annualreviews.org
Abstract Myotonic dystrophy type 1 (DM1) is caused by a CTG expansion mutation located in
the 3′ untranslated portion of the dystrophica myotonin protein kinase gene. The …

The pathophysiology of fragile x syndrome

O Penagarikano, JG Mulle… - Annu. Rev. Genomics …, 2007 - annualreviews.org
Fragile X syndrome is the most common form of inherited mental retardation. The disorder is
mainly caused by the expansion of the trinucleotide sequence CGG located in the 5′ UTR …

[HTML][HTML] The unstable repeats—three evolving faces of neurological disease

DL Nelson, HT Orr, ST Warren - Neuron, 2013 - cell.com
Disorders characterized by expansion of an unstable nucleotide repeat account for a
number of inherited neurological diseases. Here, we review examples of unstable repeat …

Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation

F Farzin, H Perry, D Hessl, D Loesch… - … of developmental & …, 2006 - journals.lww.com
Fragile X syndrome (FXS) is caused by a full mutation expansion (> 200 CGG repeats) in the
FMR1 gene that results in a deficiency of the fragile X mental retardation protein. Although …

Fragile X‐associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines

E Berry‐Kravis, L Abrams, SM Coffey… - … : official journal of the …, 2007 - Wiley Online Library
Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with
core features of action tremor and cerebellar gait ataxia. Frequent associated findings …

Dopaminergic dysregulation in syndromic autism spectrum disorders: insights from genetic mouse models

P Kosillo, HS Bateup - Frontiers in Neural Circuits, 2021 - frontiersin.org
Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined by altered social
interaction and communication, and repetitive, restricted, inflexible behaviors. Approximately …