A5059360205- Genetics and Neurodevelopmental Disorders
- Genetic Neurodegenerative Diseases
- RNA Research and Splicing
- RNA regulation and disease
- Chromosomal and Genetic Variations
- Urologic and reproductive health conditions
- RNA modifications and cancer
- Genetic factors in colorectal cancer
- RNA and protein synthesis mechanisms
- Sperm and Testicular Function
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- CRISPR and Genetic Engineering
- Cellular transport and secretion
- Parkinson's Disease Mechanisms and Treatments
Institut de génétique et de biologie moléculaire et cellulaire
2017-2025
Fraunhofer Institute for Interfacial Engineering and Biotechnology
2025
Université de Strasbourg
2017-2022
Centre National de la Recherche Scientifique
2017-2022
Inserm
2017-2022
Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative characterized by the presence of inclusions unknown origin. NIID caused an expansion GGC repeats in 5′ UTR NOTCH2NLC (N2C) gene. We found that these are embedded small upstream open reading frame (uORF) (uN2C), resulting their translation into polyglycine-containing protein, uN2CpolyG. This protein accumulates cell and mouse models tissue samples individuals with NIID. Furthermore, expression uN2CpolyG mice leads to...
Article13 January 2020Open Access Transparent process Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 expansion disorders Manon Boivin Institut de Génétique et Biologie Moléculaire Cellulaire (IGBMC), Illkirch, France Université Strasbourg, Centre National la Recherche Scientifique, UMR7104, Santé Médicale, U1258, Search for more papers by this author Véronique Pfister Angeline Gaucherot Frank Ruffenach Luc Negroni Chantal Sellier Corresponding...
<title>Abstract</title> The vast majority of the human genome is non-coding with one-half composed repeated DNA elements, including microsatellites that are short sequences 1 to 6 nucleotides. Expansion a subset these leading cause over 60 neurological diseases. However, most tandem repeat expansions located in annotated as non-coding, thus questioning how mutations pathogenic. Here, we found GGC causing various diseases, oculopharyngodistal myopathy or without leukoencephalopathy...
Can the analysis of a large Turkish consanguineous family via whole exome sequencing (WES) identify novel causative genetic variation responsible for nonobstructive azoospermia (NOA) characterized by arrest at primary spermatocyte stage?WES revealed homozygous nonsense variant in HORMAD1 three affected brothers family.Studying patient cohorts small or families using high-throughput allows identification causes different pathologies, including infertility. Over last two decades, number genes...
La myopathie oculo-pharyngo-distale (OPDM) est une maladie génétique rare de l’adulte affectant les muscles squelettiques du visage, pharynx et des extrémités membres. Récemment, variants dans quatre gènes distincts ont été identifiés comme responsables cette pathologie. Bien que localisées différents gènes, le mécanisme mutationnel identique, à savoir expansion 50 200-300 répétitions triplets nucléotides CGG. Dans cet article, nous décrivons aspects cliniques, histopathologiques génétiques...