| 1 | TRAPPC11
|
| 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.
|
| Traffic May;20(5):325-345. doi: 10.1111/tra.12640. Epub 2019 Apr 9. 2019
|
| 2 | LGMD2S, TRAPPC11
|
| 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.
|
| Sci Rep. Oct 1;9(1):14036. doi: 10.1038/s41598-019-50415-6 2019
|
| 3 | EPM6A, GOSR2, LGMD2S, TRAPPC11
|
| TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
|
| Larson AA, Baker PR 2nd, 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.
|
| Skelet Muscle. May 31;8(1):17. doi: 10.1186/s13395-018-0163-0. 2018
|
| 4 | LGMD2S, TRAPPC11
|
| Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy.
|
| Wang X, Wu Y, Cui Y, Wang N, Folkersen L, Wang Y.
|
| Case Rep Genet. Jul 16;2018:8090797. doi: 10.1155/2018/8090797. eCollection 2018 2018
|
| 5 | LGMD2S, TRAPPC11
|
| A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.
|
| Koehler K, Milev MP, Prematilake K, Reschke F, Kutzner S, Jühlen R, Landgraf D, Utine E, Hazan F, Diniz G, Schuelke M, Huebner A, Sacher M.
|
| J Med Genet. Mar;54(3):176-185. doi: 10.1136/jmedgenet-2016-104108. Epub 2016 Oct 5. 2017
|
| 6 | TRAPPC11
|
| trappc11 is required for protein glycosylation in zebrafish and humans.
|
| DeRossi C, Vacaru A, Rafiq R, Cinaroglu A, Imrie D, Nayar S, Baryshnikova A, Milev MP, Stanga D, Kadakia D, Gao N, Chu J, Freeze HH, Lehrman MA, Sacher M, Sadler KC.
|
| Mol Biol Cell. Apr 15;27(8):1220-34. doi: 10.1091/mbc.E15-08-0557. Epub 2016 Feb 24. 2016
|
| 7 | LGMD2S, TRAPPC11
|
| Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
|
| Bögershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, Nürnberg G, McLeod DR, Thiele H, Waggoner D, Altmüller J, Boycott KM, Schoser B, Nürnberg P, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE.
|
| Am J Hum Genet 93(1):181-90. doi: 10.1016/j.ajhg.2013.05.028. Epub 2013 Jul 3.
2013
|
| 8 | TRAPPC11, TRAPPC12
|
| C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking.
|
| Scrivens PJ, Noueihed B, Shahrzad N, Hul S, Brunet S, Sacher M.
|
| Mol Biol Cell 22(12):2083-93. doi: 10.1091/mbc.E10-11-0873. Epub 2011 Apr 27.
2011
|