Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Djenann Saint-Dic"'
Autor:
Lettie E Rawlins, Hashem Almousa, Shazia Khan, Stephan C Collins, Miroslav P Milev, Joseph Leslie, Djenann Saint-Dic, Valeed Khan, Ana Maria Hincapie, Jacob O Day, Lucy McGavin, Christine Rowley, Gaurav V Harlalka, Valerie E Vancollie, Wasim Ahmad, Christopher J Lelliott, Asma Gul, Binnaz Yalcin, Andrew H Crosby, Michael Sacher, Emma L Baple
Publikováno v:
PLoS Genetics, Vol 18, Iss 3, p e1010114 (2022)
The highly evolutionarily conserved transport protein particle (TRAPP) complexes (TRAPP II and III) perform fundamental roles in subcellular trafficking pathways. Here we identified biallelic variants in TRAPPC10, a component of the TRAPP II complex,
Externí odkaz:
https://doaj.org/article/5c426a88bf9249aa9daecb2e85ea53bb
Publikováno v:
Journal of inherited metabolic disease.
Mutations in the Transport and Golgi Organization 2 (TANGO2) gene are associated with intellectual deficit, neurodevelopmental delay and regression. Individuals can also present with an acute metabolic crisis that includes rhabdomyolysis, cardiomyopa
Mutations in theTransportandGolgiOrganization 2 (TANGO2) gene are associated with intellectual deficit, neurodevelopmental delay and regression. Individuals can also present with an acute metabolic crisis that includes rhabdomyolysis, cardiomyopathy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4b0a803939332ab49f7b5029846a7bfc
https://doi.org/10.1101/2022.11.04.514597
https://doi.org/10.1101/2022.11.04.514597
Autor:
Khashayar Zardoui, Christopher Law, Thomas Klopstock, Miroslav P. Milev, Felix Distelmaier, Djenann Saint-Dic, Michael Sacher
Publikováno v:
Journal of Inherited Metabolic Disease 44(2), 426-437 (2021). doi:10.1002/jimd.12312
TANGO2 variants result in a complex disease phenotype consisting of recurrent crisis-induced rhabdomyolysis, encephalopathy, seizures, lactic acidosis, hypoglycemia, and cardiac arrhythmias. Although first described in a fruit fly model as a protein
Autor:
Michael Sacher, Avraham Shaag, Michael O. Dorschner, Miroslav P. Milev, David S. Hanna, Christopher J. Hale, Ian A. Glass, Yong-Han Hank Cheng, Dan Doherty, Keshika Prematilake, Simon Edvardson, Megan E. Grout, Djenann Saint-Dic, Orly Elpeleg
Publikováno v:
The American Journal of Human Genetics. 101:291-299
Progressive childhood encephalopathy is an etiologically heterogeneous condition characterized by progressive central nervous system dysfunction in association with a broad range of morbidity and mortality. The causes of encephalopathy can be either
Autor:
Miroslav P. Milev, Djenann Saint-Dic, Michael Sacher, Daniela Stanga, Cecilia Jimenez-Mallebrera, Qingchuan Zhao
Publikováno v:
Traffic (Copenhagen, Denmark). 20(5)
TRAPPC11 has been implicated in membrane traffic and lipid-linked oligosaccharide synthesis, and mutations in TRAPPC11 result in neuromuscular and developmental phenotypes. Here, we show that TRAPPC11 has a role upstream of autophagosome formation du
Autor:
Carmen Badosa, Anne Schänzer, Michael Sacher, Ana Töpf, Lidia Gonzalez-Quereda, Cristina Jou, Jaume Colomer, Desiré González Barrios, Andreas Hahn, Miroslav P. Milev, Andrés Nascimento, Volker Straub, Katherine Johnson, Cecilia Jimenez-Mallebrera, Pia Gallano, Daniel Natera-de Benito, Carlos Ortez, Djenann Saint-Dic, Daniela Stanga
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-1 (2020)
Scientific Reports
Scientific Reports
TRAPPC11 was identified as a component of the TRAPP III complex that functions in membrane trafficking and autophagy. Variants in TRAPPC11 have been reported to be associated with a broad spectrum of phenotypes but all affected individuals display mu
Autor:
Miroslav P, Milev, Claudio, Graziano, Daniela, Karall, Willemijn F E, Kuper, Noraldin, Al-Deri, Duccio Maria, Cordelli, Tobias B, Haack, Katharina, Danhauser, Arcangela, Iuso, Flavia, Palombo, Tommaso, Pippucci, Holger, Prokisch, Djenann, Saint-Dic, Marco, Seri, Daniela, Stanga, Giovanna, Cenacchi, Koen L I, van Gassen, Johannes, Zschocke, Christine, Fauth, Johannes A, Mayr, Michael, Sacher, Peter M, van Hasselt
Publikováno v:
Journal of medical genetics. 55(11)
The combination of febrile illness-induced encephalopathy and rhabdomyolysis has thus far only been described in disorders that affect cellular energy status. In the absence of specific metabolic abnormalities, diagnosis can be challenging.The object
TRAMM/TrappC12 plays a role in chromosome congression, kinetochore stability, and CENP-E recruitment
Autor:
Benedeta Hasaj, Michael Sacher, Qingchuan Zhao, Sary Snounou, Miroslav P. Milev, Djenann Saint-Dic
Publikováno v:
The Journal of Cell Biology
The TRAPP subunit TrappC12/TTC15, here renamed TRAMM, plays a role in the regulation of kinetochore stability and CENP-E recruitment during mitosis.
Chromosome congression requires the stable attachment of microtubules to chromosomes mediated by
Chromosome congression requires the stable attachment of microtubules to chromosomes mediated by