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PubMed Publications| Keyword search (4,163 papers available) |  |
"Sacher M" Authored Publications:
| Title | Authors | PubMed ID | |
|---|---|---|---|
| 1 | Cross-species evaluation of TANGO2 homologs, including HRG-9 and HRG-10 in em Caenorhabditis elegans, /em challenges a proposed role in heme trafficking | Sandkuhler SE; Youngs KS; Gottipalli O; Owlett LD; Bandora MB; Naaz A; Kim E; Wang L; Wojtovich A; Gupta V; Sacher M; Mackenzie SJ; | 41504601 BIOLOGY |
| 2 | 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 |
| 3 | Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance | Muffels IJJ; Waterham HR; D' Alessandro G; Zagnoli-Vieira G; Sacher M; Lefeber DJ; Van der Vinne C; Roifman CM; Gassen KLI; Rehmann H; Van Haaften-Visser DY; Nieuwenhuis ESS; Jackson SP; Fuchs SA; Wijk F; van Hasselt P; | 39920830 BIOLOGY |
| 4 | 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 |
| 5 | TANGO2 deficiency disease is predominantly caused by a lipid imbalance | Sacher M; DeLoriea J; Mehranfar M; Casey C; Naaz A; Gamberi C; | 38836374 BIOLOGY |
| 6 | Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients | Miyake CY; Lay EJ; Soler-Alfonso C; Glinton KE; Houck KM; Tosur M; Moran NE; Stephens SB; Scaglia F; Howard TS; Kim JJ; Pham TD; Valdes SO; Li N; Murali CN; Zhang L; Kava M; Yim D; Beach C; Webster G; Liberman L; Janson CM; Kannankeril PJ; Baxter S; Singer-Berk M; Wood J; Mackenzie SJ; Sacher M; Ghaloul-Gonzalez L; Pedroza C; Morris SA; Ehsan SA; Azamian MS; Lalani SR; | 36473599 BIOLOGY |
| 7 | 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 |
| 8 | 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 |
| 9 | 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 |
| 10 | 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 |
| 11 | 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 |
| 12 | 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 |
| 13 | A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function. | Al-Deri N, Okur V, Ahimaz P, Milev M, Valivullah Z, Hagen J, Sheng Y, Chung W, Sacher M, Ganapathi M | 32843486 BIOLOGY |
| 14 | TRAPPing a neurological disorder: from yeast to humans. | Lipatova Z, Van Bergen N, Stanga D, Sacher M, Christodoulou J, Segev N | 32116085 BIOLOGY |
| 15 | Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. | Van Bergen NJ, Guo Y, Al-Deri N, Lipatova Z, Stanga D, Zhao S, Murtazina R, Gyurkovska V, Pehlivan D, Mitani T, Gezdirici A, Antony J, Collins F, Willis MJH, Coban Akdemir ZH, Liu P, Punetha J, Hunter JV, Jhangiani SN, Fatih JM, Rosenfeld JA, Posey JE, Gibbs RA, Karaca E, Massey S, Ranasinghe TG, Sleiman P, Troedson C, Lupski JR, Sacher M, Segev N, Hakonarson H, Christodoulou J | 31794024 BIOLOGY |
| 16 | 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 |
| 17 | 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 |
| 18 | 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 |
| 19 | 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 |
| 20 | 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 |
| 21 | 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 |
| 22 | 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: | Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients | ||||
| Authors: | Miyake CY, Lay EJ, Soler-Alfonso C, Glinton KE, Houck KM, Tosur M, Moran NE, Stephens SB, Scaglia F, Howard TS, Kim JJ, Pham TD, Valdes SO, Li N, Murali CN, Zhang L, Kava M, Yim D, Beach C, Webster G, Liberman L, Janson CM, Kannankeril PJ, Baxter S, Singer-Berk M, Wood J, Mackenzie SJ, Sacher M, Ghaloul-Gonzalez L, Pedroza C, Morris SA, Ehsan SA, Azamian MS, Lalani SR | ||||
| Link: | pubmed.ncbi.nlm.nih.gov/36473599/ | ||||
| DOI: | 10.1016/j.gim.2022.11.020 | ||||
| Publication: | Genetics in medicine : official journal of the American College of Medical Genetics | ||||
| Keywords: | Metabolic crises; Natural history study; TANGO2; Treatment; Vitamins; | ||||
| PMID: | 36473599 | Category: | Date Added: | 2024-05-24 | |
| Dept Affiliation: |
BIOLOGY
1 Division of Pediatric Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston TX. Electronic address: cymiyake@bcm.edu. 2 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX. 3 Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX. 4 Division of Diabetes and Endocrinology, Department of Pediatrics, USDA/ARS Children's Nutrition Research Center, Texas Children's Hospital and Baylor College of Medicine, Houston, TX. 5 USDA/ARS Children's Nutrition Research Center, Division of Nutrition, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX. 6 Division of Pediatric Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX. 7 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Hong Kong, Special Administrative Region. 8 Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston TX; Department of Medicine, Section of Cardiovascular Research, Baylor College of Medicine, Houston, TX. 9 Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX. 10 Department of Neurology, Perth Children's Hospital, Perth, Western Australia, Australia; Departments of Metabolic Medicine and Rheumatology, Perth Children's Hospital, Perth, Western Australia, Australia; Medical School, University of Western Australia, Perth, Western Australia, Australia. 11 Department of Cardiology, Perth Children's Hospital, Perth, Western Australia, Australia. 12 Division of Cardiology, Department of Pediatrics, Yale School of Medicine, Yale University, New Haven, CT. 13 Division of Cardiology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Nortwestern University Feinberg School of Medicine, Chicago, IL. 14 Division of Cardiology, Department of Pediatrics, New York Presbyterian Morgan Stanley Children's Hospital, New York, NY. 15 Division of Cardiology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA. 16 Center for Pediatric Precision Medicine, Department of Pediatrics, Vanderbilt University Medical Center and the Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN. 17 Broad Institute of MIT and Harvard, Cambridge, MA. 18 Department of Neurology, University of Rochester Medical Center, Rochester, NY. 19 Department of Biology, Concordia University, Montreal, Quebec, Canada; Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, Canada. 20 Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA. 21 Department of Pediatrics, McGovern Medical School, University of Texas Health Center at Houston, Houston, TX. 22 Baylor College of Medicine, Houston, TX. |
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Description: |
Purpose: TANGO2 deficiency disorder (TDD), an autosomal recessive disease first reported in 2016, is characterized by neurodevelopmental delay, seizures, intermittent ataxia, hypothyroidism, and life-threatening metabolic and cardiac crises. The purpose of this study was to define the natural history of TDD. Methods: Data were collected from an ongoing natural history study of patients with TDD enrolled between February 2019 and May 2022. Data were obtained through phone or video based parent interviews and medical record review. Results: Data were collected from 73 patients (59% male) from 57 unrelated families living in 16 different countries. The median age of participants at the time of data collection was 9.0 years (interquartile range = 5.3-15.9 years, range = fetal to 31.8 years). A total of 24 different TANGO2 alleles were observed. Patients showed normal development in early infancy, with progressive delay in developmental milestones thereafter. Symptoms included ataxia, dystonia, and speech difficulties, typically starting between the ages of 1 to 3 years. A total of 46/71 (65%) patients suffered metabolic crises, and of those, 30 (65%) developed cardiac crises. Metabolic crises were significantly decreased after the initiation of B-complex or multivitamin supplementation. Conclusion: We provide the most comprehensive review of natural history of TDD and important observational data suggesting that B-complex or multivitamins may prevent metabolic crises. |
