An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome

K Harhouri, D Frankel, C Bartoli, P Roll… - Nucleus, 2018 - Taylor & Francis
Hutchinson-Gilford progeria syndrome (HGPS) is a sporadic, autosomal dominant disorder
characterized by premature and accelerated aging symptoms leading to death at the mean …

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

P Cau, C Navarro, K Harhouri, P Roll, S Sigaudy… - Seminars in cell & …, 2014 - Elsevier
Lamin A-related progeroid syndromes are genetically determined, extremely rare and
severe. In the past ten years, our knowledge and perspectives for these diseases has widely …

SRPX2 mutations in disorders of language cortex and cognition

P Roll, G Rudolf, S Pereira, B Royer… - Human molecular …, 2006 - academic.oup.com
The rolandic and sylvian fissures divide the human cerebral hemispheres and the adjacent
areas participate in speech processing. The relationship of rolandic (sylvian) seizure …

[PDF][PDF] Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions

HY Lee, Y Huang, N Bruneau, P Roll, EDO Roberson… - Cell reports, 2012 - cell.com
Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement
disorder with autosomal-dominant inheritance and high penetrance, but the causative …

[HTML][HTML] miR-140-5p and miR-140-3p: key actors in aging-related diseases?

…, D Frankel, C Airault, F Magdinier, P Roll… - International Journal of …, 2022 - mdpi.com
microRNAs (miRNAs) are small single strand non-coding RNAs and powerful gene expression
regulators. They mainly bind to the 3′UTR sequence of targeted mRNA, leading to their …

Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex

P Roll, SC Vernes, N Bruneau, J Cillario… - Human molecular …, 2010 - academic.oup.com
It is a challenge to identify the molecular networks contributing to the neural basis of human
speech. Mutations in transcription factor FOXP2 cause difficulties mastering fluent speech (…

Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR

…, M Ponsole-Lenfant, H Gara, P Roll… - Human molecular …, 2008 - academic.oup.com
Mutations in SRPX2 (Sushi-Repeat Protein, X-linked 2) cause rolandic epilepsy with
speech impairment (RESDX syndrome) or with altered development of the speech cortex (bilateral …

Large-scale expression study of human mesial temporal lobe epilepsy: evidence for dysregulation of the neurotransmission and complement systems in the entorhinal …

…, JC Peragut, J Régis, H Dufour, R Ravid, P Roll… - Brain, 2006 - academic.oup.com
Human mesial temporal lobe epilepsies (MTLE) are the most frequent form of partial epilepsies
and display frequent pharmacoresistance. The molecular alterations underlying human …

[HTML][HTML] New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

…, M Biervliet, PC Van Den Akker, P Cau, P Roll… - European Journal of …, 2014 - nature.com
Restrictive dermopathy (RD) is a rare and extremely severe congenital genodermatosis,
characterized by a tight rigid skin with erosions at flexure sites, multiple joint contractures, low …

High prevalence of laminopathies among patients with metabolic syndrome

A Dutour, P Roll, B Gaborit, S Courrier… - Human molecular …, 2011 - academic.oup.com
Constitutional laminopathies, such as the Dunnigan familial partial lipodystrophy, are severe
diseases caused by mutations in A-type lamins and share several features with metabolic …