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PubMed Publications| Keyword search (4,163 papers available) |  |
"Milev MP" 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 | A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a TRAPPC1-Associated Neurodevelopmental Syndrome | Zykaj E; Abboud C; Asadi P; Warsame S; Almousa H; Milev MP; Greco BM; López-Sánchez M; Bratkovic D; Kachroo AH; Pérez-Jurado LA; Sacher M; | 39273027 BIOLOGY |
| 3 | Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset | Mansur A; Joseph R; Kim ES; Jean-Beltran PM; Udeshi ND; Pearce C; Jiang H; Iwase R; Milev MP; Almousa HA; McNamara E; Widrick J; Perez C; Ravenscroft G; Sacher M; Cole PA; Carr SA; Gupta VA; | 37432316 BIOLOGY |
| 4 | 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 |
| 5 | 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 |
| 6 | TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain | Munot P; McCrea N; Torelli S; Manzur A; Sewry C; Chambers D; Feng L; Ala P; Zaharieva I; Ragge N; Roper H; Marton T; Cox P; Milev MP; Liang WC; Maruyama S; Nishino I; Sacher M; Phadke R; Muntoni F; | 34648194 BIOLOGY |
| 7 | 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 |
| 8 | 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 |
| 9 | 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 |
| 10 | 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 |
| 11 | 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 |
| 12 | TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy. | Larson AA, Baker PR, Milev MP, Press CA, Sokol RJ, Cox MO, Lekostaj JK, Stence AA, Bossler AD, Mueller JM, Prematilake K, Tadjo TF, Williams CA, Sacher M, Moore SA | 29855340 BIOLOGY |
| 13 | 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 |
| 14 | TRAPPopathies: An emerging set of disorders linked to variations in the genes encoding transport protein particle (TRAPP)-associated proteins. | Sacher M, Shahrzad N, Kamel H, Milev MP | 30152084 BIOLOGY |
| 15 | 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 |
