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PubMed Publications| Keyword search (4,163 papers available) |  |
"Saint-Dic D" Authored Publications:
| Title | Authors | PubMed ID | |
|---|---|---|---|
| 1 | SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis | Bögershausen N; Cavdarli B; Nagai T; Milev MP; Wolff A; Mehranfar M; Schmidt J; Choudhary D; Gutiérrez-Gutiérrez Ó; Cyganek L; Saint-Dic D; Zibat A; Köhrer K; Wollenweber TE; Wieczorek D; Altmüller J; Borodina T; Kaçar D; Haliloglu G; Li Y; Thiel C; Sacher M; Knapik EW; Yigit G; Wollnik B; | 40131364 BIOLOGY |
| 2 | Vitamin B5, a Coenzyme A precursor, rescues TANGO2 deficiency disease-associated defects in Drosophila and human cells | Asadi P; Milev MP; Saint-Dic D; Gamberi C; Sacher M; | 36502486 BIOLOGY |
| 3 | Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice | Rawlins LE; Almousa H; Khan S; Collins SC; Milev MP; Leslie J; Saint-Dic D; Khan V; Hincapie AM; Day JO; McGavin L; Rowley C; Harlalka GV; Vancollie VE; Ahmad W; Lelliott CJ; Gul A; Yalcin B; Crosby AH; Sacher M; Baple EL; | 35298461 BIOLOGY |
| 4 | Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein. | Milev MP; Stanga D; Schänzer A; Nascimento A; Saint-Dic D; Ortez C; Natera-de Benito D; Barrios DG; Colomer J; Badosa C; Jou C; Gallano P; Gonzalez-Quereda L; Töpf A; Johnson K; Straub V; Hahn A; Sacher M; Jimenez-Mallebrera C; | 33173071 BIOLOGY |
| 5 | The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria. | Milev MP, Saint-Dic D, Zardoui K, Klopstock T, Law C, Distelmaier F, Sacher M | 32909282 BIOLOGY |
| 6 | Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein. | Milev MP, Stanga D, Schänzer A, Nascimento A, Saint-Dic D, Ortez C, Benito DN, Barrios DG, Colomer J, Badosa C, Jou C, Gallano P, Gonzalez-Quereda L, Töpf A, Johnson K, Straub V, Hahn A, Sacher M, Jimenez-Mallebrera C | 31575891 BIOLOGY |
| 7 | Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction. | Milev MP, Grout ME, Saint-Dic D, Cheng YH, Glass IA, Hale CJ, Hanna DS, Dorschner MO, Prematilake K, Shaag A, Elpeleg O, Sacher M, Doherty D, Edvardson S | 28777934 BIOLOGY |
| 8 | TRAMM/TrappC12 plays a role in chromosome congression, kinetochore stability, and CENP-E recruitment. | Milev MP, Hasaj B, Saint-Dic D, Snounou S, Zhao Q, Sacher M | 25918224 BIOLOGY |
| 9 | Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. | Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri M, Stanga D, Cenacchi G, van Gassen KLI, Zschocke J, Fauth C, Mayr JA, Sacher M, van Hasselt PM | 30120216 BIOLOGY |
| 10 | TRAPPC11 functions in autophagy by recruiting ATG2B-WIPI4/WDR45 to preautophagosomal membranes. | Stanga D, Zhao Q, Milev MP, Saint-Dic D, Jimenez-Mallebrera C, Sacher M | 30843302 CONCORDIA |
| Title: | Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein. | ||||
| Authors: | Milev MP, Stanga D, Schänzer A, Nascimento A, Saint-Dic D, Ortez C, Benito DN, Barrios DG, Colomer J, Badosa C, Jou C, Gallano P, Gonzalez-Quereda L, Töpf A, Johnson K, Straub V, Hahn A, Sacher M, Jimenez-Mallebrera C | ||||
| Link: | https://www.ncbi.nlm.nih.gov/pubmed/31575891?dopt=Abstract | ||||
| DOI: | 10.1038/s41598-019-50415-6 | ||||
| Publication: | Scientific reports | ||||
| Keywords: | |||||
| PMID: | 31575891 | Category: | Sci Rep | Date Added: | 2019-10-03 |
| Dept Affiliation: |
BIOLOGY
1 Concordia University, Department of Biology, Montreal, Quebec, Canada. 2 Institute of Neuropathology, Justus Liebig University Giessen, Giessen, Germany. 3 Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. 4 U705 and U703 Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. 5 Servicio de Pediatría, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain. 6 Pathology Department and Biobank, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. 7 Servicio de Genética, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. 8 The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK. 9 Institute of Cellular Medicine, Newcastle University, Newcastle-upon-Tyne, UK. 10 Department of Child Neurology, Justus Liebig University Giessen, Giessen, Germany. Andreas.Hahn@paediat.med.uni-giessen.de. 11 Concordia University, Department of Biology, Montreal, Quebec, Canada. michael.sacher@concordia.ca. 12 McGill University, Department of Anatomy and Cell Biology, Montreal, Quebec, Canada. michael.sacher@concordia.ca. 13 Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. cjimenezm@fsjd.org. 14 U705 and U703 Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. cjimenezm@fsjd.org. |
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Description: |
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein. Sci Rep. 2019 Oct 01;9(1):14036 Authors: Milev MP, Stanga D, Schänzer A, Nascimento A, Saint-Dic D, Ortez C, Benito DN, Barrios DG, Colomer J, Badosa C, Jou C, Gallano P, Gonzalez-Quereda L, Töpf A, Johnson K, Straub V, Hahn A, Sacher M, Jimenez-Mallebrera C Abstract PMID: 31575891 [PubMed - in process] |
