| Title : Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome - Bhalla_2024_Biochim.Biophys.Acta.Mol.Basis.Dis__167175 |
| Author(s) : Bhalla K , Rosier K , Monnens Y , Meulemans S , Vervoort E , Thorrez L , Agostinis P , Meier DT , Rochtus A , Resnick JL , Creemers JWM |
| Ref : Biochimica & Biophysica Acta Mol Basis Dis , :167175 , 2024 |
| Abstract : |
| PubMedSearch : Bhalla_2024_Biochim.Biophys.Acta.Mol.Basis.Dis__167175 |
| PubMedID: 38626828 |
| Title : Missense variants in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions - Monnens_2024_JCI.Insight__e179276 |
| Author(s) : Monnens Y , Theodoropoulou A , Rosier K , Bhalla K , Mahy A , Vanhoutte R , Meulemans S , Cavani E , Antanasijevic A , Lemmens I , Lee JA , Spellicy CJ , Schroer RJ , Maselli RA , Laverty CG , Agostinis P , Pagliarini DJ , Verhelst S , Marcaida MJ , Rochtus A , Dal Peraro M , Creemers JW |
| Ref : JCI Insight , : , 2024 |
| Abstract : |
| PubMedSearch : Monnens_2024_JCI.Insight__e179276 |
| PubMedID: 39078710 |
| Gene_locus related to this paper: human-PREPL |
| Title : Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome - Bhalla_2024_Biochim.Biophys.Acta.Mol.Basis.Dis__167175 |
| Author(s) : Bhalla K , Rosier K , Monnens Y , Meulemans S , Vervoort E , Thorrez L , Agostinis P , Meier DT , Rochtus A , Resnick JL , Creemers JWM |
| Ref : Biochimica & Biophysica Acta Mol Basis Dis , :167175 , 2024 |
| Abstract : |
| PubMedSearch : Bhalla_2024_Biochim.Biophys.Acta.Mol.Basis.Dis__167175 |
| PubMedID: 38626828 |
| Title : Missense variants in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions - Monnens_2024_JCI.Insight__e179276 |
| Author(s) : Monnens Y , Theodoropoulou A , Rosier K , Bhalla K , Mahy A , Vanhoutte R , Meulemans S , Cavani E , Antanasijevic A , Lemmens I , Lee JA , Spellicy CJ , Schroer RJ , Maselli RA , Laverty CG , Agostinis P , Pagliarini DJ , Verhelst S , Marcaida MJ , Rochtus A , Dal Peraro M , Creemers JW |
| Ref : JCI Insight , : , 2024 |
| Abstract : |
| PubMedSearch : Monnens_2024_JCI.Insight__e179276 |
| PubMedID: 39078710 |
| Gene_locus related to this paper: human-PREPL |
| Title : Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome - Bhalla_2024_Biochim.Biophys.Acta.Mol.Basis.Dis__167175 |
| Author(s) : Bhalla K , Rosier K , Monnens Y , Meulemans S , Vervoort E , Thorrez L , Agostinis P , Meier DT , Rochtus A , Resnick JL , Creemers JWM |
| Ref : Biochimica & Biophysica Acta Mol Basis Dis , :167175 , 2024 |
| Abstract : |
| PubMedSearch : Bhalla_2024_Biochim.Biophys.Acta.Mol.Basis.Dis__167175 |
| PubMedID: 38626828 |
| Title : Missense variants in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions - Monnens_2024_JCI.Insight__e179276 |
| Author(s) : Monnens Y , Theodoropoulou A , Rosier K , Bhalla K , Mahy A , Vanhoutte R , Meulemans S , Cavani E , Antanasijevic A , Lemmens I , Lee JA , Spellicy CJ , Schroer RJ , Maselli RA , Laverty CG , Agostinis P , Pagliarini DJ , Verhelst S , Marcaida MJ , Rochtus A , Dal Peraro M , Creemers JW |
| Ref : JCI Insight , : , 2024 |
| Abstract : |
| PubMedSearch : Monnens_2024_JCI.Insight__e179276 |
| PubMedID: 39078710 |
| Gene_locus related to this paper: human-PREPL |