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PubMed Publications| Keyword search (4,164 papers available) |  |
"Golgi" Keyword-tagged Publications:
| Title | Authors | PubMed ID | |
|---|---|---|---|
| 1 | 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 |
| 2 | TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions | Almousa H; Lewis SA; Bakhtiari S; Nordlie SH; Pagnozzi A; Magee H; Efthymiou S; Heim JA; Cornejo P; Zaki MS; Anwar N; Maqbool S; Rahman F; Neilson DE; Vemuri A; Jin SC; Yang XR; Heidari A; van Gassen K; Trimouille A; Thauvin-Robinet C; Liu J; Bruel AL; Tomoum H; Shata MO; Hashem MO; Toosi MB; Ghayoor Karimiani E; Yesil G; Lingappa L; Baruah D; Ebrahimzadeh F; Van-Gils J; Faivre L; Zamani M; Galehdari H; Sadeghian S; Shariati G; Mohammad R; van der Smagt J; Qari A; Vincent JB; Innes AM; Dursun A; Özgül RK; A | 37713627 BIOLOGY |
| 3 | 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 |
| 4 | 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 |
| 5 | 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 |
| 6 | 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 |
| Title: | Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction. | ||||
| Authors: | 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 | ||||
| Link: | https://www.ncbi.nlm.nih.gov/pubmed/28777934?dopt=Abstract | ||||
| DOI: | 10.1016/j.ajhg.2017.07.006 | ||||
| Publication: | American journal of human genetics | ||||
| Keywords: | Golgi; TRAPP; TRAPPC12; brain atrophy; encephalopathy; potocerebellar hypoplasia; | ||||
| PMID: | 28777934 | Category: | Am J Hum Genet | Date Added: | 2019-06-20 |
| Dept Affiliation: |
BIOLOGY
1 Department of Biology, Concordia University, Montreal, QC H4B 1R6, Canada. 2 Department of Pediatrics, University of Washington, Seattle, WA 98195, USA. 3 Department of Pathology, Center for Precision Diagnostics, University of Washington, Seattle, WA 98195, USA. 4 Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel. 5 Department of Biology, Concordia University, Montreal, QC H4B 1R6, Canada; Department of Anatomy and Cell Biology, McGill University, Montreal, QC H3A 0C7, Canada. Electronic address: michael.sacher@concordia.ca. 6 Department of Pediatrics, University of Washington, Seattle, WA 98195, USA. Electronic address: ddoher@uw.edu. 7 Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel. |
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Description: |
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction. Am J Hum Genet. 2017 Aug 03;101(2):291-299 Authors: 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 Abstract PMID: 28777934 [PubMed - indexed for MEDLINE] |
