Philippe M Campeau

Oct 23, 2024 | nature.com | Angela Peron |Kimberly A Aldinger |Christiane Zweier |Erica Andersen |Lynne M. Bird |Ange-Line Bruel | +11 more

AbstractAn increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.a. Dias-Logan syndrome) ascertained through an international collaborative network, and reviewed 35 additional previously reported patients.

Oct 23, 2024 | nature.com | Angela Peron |Kimberly A Aldinger |Christiane Zweier |Erica Andersen |Lynne M. Bird |Ange-Line Bruel | +11 more

AbstractAn increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.a. Dias-Logan syndrome) ascertained through an international collaborative network, and reviewed 35 additional previously reported patients.

Sep 21, 2024 | biorxiv.org | Sara Benhammouda |Justine Rousseau |Philippe M Campeau |Marc Germain

AbstractThe RabGAP protein TBC1D24 is mutated in several neurological disorders including DOORS syndrome (Deafness, Onycho-Osteodystrophy, Mental Retardation, Seizures). Although TBC1D24 comprises two highly conserved domains - the Tre2/Bub2/Cdc16 (TBC) domain and the TLDc domain - both of which seem to play critical roles in cellular functions, its exact physiological function within the cell remains poorly understood. Here, we show that TBC1D24 affects mitochondrial structure and activity.

Jun 23, 2024 | nature.com | Kornelia Ellwanger |Julie Brill |Elke de Boer |Amanda G. Lobato |Michela Ori |Ashleigh E. Schaffer | +5 more

In biomedical research, particularly for rare diseases (RDs), there is a critical need for model organisms to unravel the mechanistic basis of diseases, perform biomarker studies and develop potential therapeutic interventions. Within Solve-RD, an EU-funded research project with the aim of solving large numbers of previously unsolved RDs, the European Rare Disease Models & Mechanisms Network (RDMM-Europe) has been established.

May 21, 2024 | onlinelibrary.wiley.com | Philippe M Campeau |Yosra Mehrjoo |Abdullah Aldowaish |Omar Abouyousef

1 INTRODUCTION The essential CMG complex (CDC45-MCM-GINS) allows the unwinding of the DNA double helix and the initiation of DNA replication during the S phase of the cell cycle (reviewed in Reference 1). Pathogenic variants of this complex have previously been implicated in Meier–Gorlin syndrome (MGORS),2 an autosomal recessive disorder characterized by growth delay, microtia, and patellar hypo/aplasia.