Intron retention induced by microsatellite expansions as a disease biomarker

Challenges in defining the role of intron retention in normal biology and disease

(2018) Darya P. Vanichkina et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy

(2017) James D. Thomas et al.   GENES & DEVELOPMENT

RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2

(2017) Tao Zu et al.   NEURON

Structural Characteristics of Simple RNA Repeats Associated with Disease and their Deleterious Protein Interactions

(2017) Adam Ciesiolka et al.   Frontiers in Cellular Neuroscience

The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington’s disease patients

(2017) Andreas Neueder et al.   Scientific Reports

Characterization of frataxin gene network in Friedreich's ataxia fibroblasts using the RNA-Seq technique

(2016) Noëlia Sanchez et al.   MITOCHONDRION

The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease

(2016) Aaron R. Haeusler et al.   NATURE REVIEWS NEUROSCIENCE

C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD

(2016) Yuanjing Liu et al.   NEURON

Targeted Intron Retention and Excision for Rapid Gene Regulation in Response to Neuronal Activity

(2016) Oriane Mauger et al.   NEURON

Mechanistic determinants of MBNL activity

(2016) Łukasz J. Sznajder et al.   NUCLEIC ACIDS RESEARCH

C9orf72 is required for proper macrophage and microglial function in mice

(2016) J. G. ORourke et al.   SCIENCE

Dose-Dependent Regulation of Alternative Splicing by MBNL Proteins Reveals Biomarkers for Myotonic Dystrophy

(2016) Stacey D. Wagner et al.   PLoS Genetics

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

(2016) Michael Niblock et al.   Acta Neuropathologica Communications

DNA Triplet Repeat Expansion and Mismatch Repair

(2015) Ravi R. Iyer et al.   Annual Review of Biochemistry

Crystallographic and Computational Analyses of AUUCU Repeating RNA That Causes Spinocerebellar Ataxia Type 10 (SCA10)

(2015) HaJeung Park et al.   BIOCHEMISTRY

Repeat DNA in genome organization and stability

(2015) Jan Padeken et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Detained introns are a novel, widespread class of post-transcriptionally spliced introns

(2015) Paul L. Boutz et al.   GENES & DEVELOPMENT

RNA Toxicity and Missplicing in the Common Eye Disease Fuchs Endothelial Corneal Dystrophy

(2015) Jintang Du et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Intron retention is a widespread mechanism of tumor-suppressor inactivation

(2015) Hyunchul Jung et al.   NATURE GENETICS

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

(2015) Mercedes Prudencio et al.   NATURE NEUROSCIENCE

Widespread intron retention in mammals functionally tunes transcriptomes

(2014) Ulrich Braunschweig et al.   GENOME RESEARCH

Loss of MBNL Leads to Disruption of Developmentally Regulated Alternative Polyadenylation in RNA-Mediated Disease

(2014) Ranjan Batra et al.   MOLECULAR CELL

A promoter-level mammalian expression atlas

(2014)   NATURE

Splicing biomarkers of disease severity in myotonic dystrophy

(2013) Masayuki Nakamori et al.   ANNALS OF NEUROLOGY

Orchestrated Intron Retention Regulates Normal Granulocyte Differentiation

(2013) Justin J.-L. Wong et al.   CELL

Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies

(2013) Linda L. Bachinski et al.   NEUROMUSCULAR DISORDERS

Identification of novel molecular markers through transcriptomic analysis in human fetal and adult corneal endothelial cells

(2012) Yinyin Chen et al.   HUMAN MOLECULAR GENETICS

Is Friedreich ataxia an epigenetic disorder?

(2012) Daman Kumari et al.   Clinical Epigenetics

La réactivation par translecture du gènep53possédant une mutation non-sens induit l’apoptose de cellules cancéreuses

(2011) Célia Floquet et al.   M S-MEDECINE SCIENCES

Repetitive Elements May Comprise Over Two-Thirds of the Human Genome

(2011) A. P. Jason de Koning et al.   PLoS Genetics

Mutant (CCTG)n Expansion Causes Abnormal Expression of Zinc Finger Protein 9 (ZNF9) in Myotonic Dystrophy Type 2

(2010) Olayinka Raheem et al.   AMERICAN JOURNAL OF PATHOLOGY

Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation

(2010) Tanel Punga et al.   EMBO Molecular Medicine

Repeat instability as the basis for human diseases and as a potential target for therapy

(2010) Arturo López Castel et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Reduction of the Rate of Protein Translation in Patients with Myotonic Dystrophy 2

(2009) C. Huichalaf et al.   JOURNAL OF NEUROSCIENCE

Influence of Friedreich Ataxia GAA Noncoding Repeat Expansions on Pre-mRNA Processing

(2008) Marco Baralle et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Tau Mutations in Neurodegenerative Diseases

(2008) Michael S. Wolfe   JOURNAL OF BIOLOGICAL CHEMISTRY