Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice
Rawlins, Lettie E, Almousa, Hashem, Khan, Shazia, Collins, Stephan C, Milev, Miroslav P, Leslie, Joseph, Saint-Dic, Djenann, Khan, Valeed, Hincapie, Ana Maria, Day, Jacob O, McGavin, Lucy, Rowley, Christine, Harlalka, Gaurav V, Vancollie, Valerie E, Ahmad, Wasim, Lelliott, Christopher J, Gul, Asma, Yalcin, Binnaz, Crosby, Andrew H, Sacher, Michael, Baple, Emma L
Published in PLoS genetics (17.03.2022)
Published in PLoS genetics (17.03.2022)
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Journal Article
HIV-1 enhances mTORC1 activity and repositions lysosomes to the periphery by co-opting Rag GTPases
Cinti, Alessandro, Le Sage, Valerie, Milev, Miroslav P., Valiente-Echeverría, Fernando, Crossie, Christina, Miron, Marie-Joelle, Panté, Nelly, Olivier, Martin, Mouland, Andrew J.
Published in Scientific reports (14.07.2017)
Published in Scientific reports (14.07.2017)
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Journal Article
Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset
Mansur, Arian, Joseph, Remi, Kim, Euri S, Jean-Beltran, Pierre M, Udeshi, Namrata D, Pearce, Cadence, Jiang, Hanjie, Iwase, Reina, Milev, Miroslav P, Almousa, Hashem A, McNamara, Elyshia, Widrick, Jeffrey, Perez, Claudio, Ravenscroft, Gianina, Sacher, Michael, Cole, Philip A, Carr, Steven A, Gupta, Vandana A
Published in eLife (11.07.2023)
Published in eLife (11.07.2023)
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Journal Article
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein
Milev, Miroslav P., Stanga, Daniela, Schänzer, Anne, Nascimento, Andrés, Saint-Dic, Djenann, Ortez, Carlos, Natera-de Benito, Daniel, Barrios, Desiré González, Colomer, Jaume, Badosa, Carmen, Jou, Cristina, Gallano, Pia, Gonzalez-Quereda, Lidia, Töpf, Ana, Johnson, Katherine, Straub, Volker, Hahn, Andreas, Sacher, Michael, Jimenez-Mallebrera, Cecilia
Published in Scientific reports (01.10.2019)
Published in Scientific reports (01.10.2019)
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Journal Article
Differential effects of hnRNP D/AUF1 isoforms on HIV-1 gene expression
Lund, Nicole, Milev, Miroslav P, Wong, Raymond, Sanmuganantham, Tharmila, Woolaway, Kathryn, Chabot, Benoit, Abou Elela, Sherif, Mouland, Andrew J, Cochrane, Alan
Published in Nucleic acids research (01.04.2012)
Published in Nucleic acids research (01.04.2012)
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Journal Article
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy
Larson, Austin A, Baker, 2nd, Peter R, Milev, Miroslav P, Press, Craig A, Sokol, Ronald J, Cox, Mary O, Lekostaj, Jacqueline K, Stence, Aaron A, Bossler, Aaron D, Mueller, Jennifer M, Prematilake, Keshika, Tadjo, Thierry Fotsing, Williams, Charles A, Sacher, Michael, Moore, Steven A
Published in Skeletal muscle (31.05.2018)
Published in Skeletal muscle (31.05.2018)
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Journal Article
Intracellular Transport of Human Immunodeficiency Virus Type 1 Genomic RNA and Viral Production Are Dependent on Dynein Motor Function and Late Endosome Positioning
Lehmann, Martin, Milev, Miroslav P., Abrahamyan, Levon, Yao, Xiao-Jian, Pante, Nelly, Mouland, Andrew J.
Published in The Journal of biological chemistry (22.05.2009)
Published in The Journal of biological chemistry (22.05.2009)
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Journal Article
A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a TRAPPC1 -Associated Neurodevelopmental Syndrome
Zykaj, Erta, Abboud, Chelsea, Asadi, Paria, Warsame, Simane, Almousa, Hashem, Milev, Miroslav P, Greco, Brittany M, López-Sánchez, Marcos, Bratkovic, Drago, Kachroo, Aashiq H, Pérez-Jurado, Luis Alberto, Sacher, Michael
Published in Cells (Basel, Switzerland) (30.08.2024)
Published in Cells (Basel, Switzerland) (30.08.2024)
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Journal Article
Naturally-occurring genetic variants in human DC-SIGN increase HIV-1 capture, cell-transfer and risk of mother-to-child transmission
Boily-Larouche, Geneviève, Milev, Miroslav P, Zijenah, Lynn S, Labbé, Annie-Claude, Zannou, Djimon M, Humphrey, Jean H, Ward, Brian J, Poudrier, Johanne, Mouland, Andrew J, Cohen, Eric A, Roger, Michel
Published in PloS one (10.07.2012)
Published in PloS one (10.07.2012)
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Journal Article
Lipidomic analysis of human TANGO2-deficient cells suggests a lipid imbalance as a cause of TANGO2 deficiency disease
Mehranfar, Mahsa, Asadi, Paria, Shokohi, Rozmehr, Milev, Miroslav P., Gamberi, Chiara, Sacher, Michael
Published in Biochemical and biophysical research communications (12.07.2024)
Published in Biochemical and biophysical research communications (12.07.2024)
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Journal Article
Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease‐associated defects in Drosophila and human cells
Asadi, Paria, Milev, Miroslav P., Saint‐Dic, Djenann, Gamberi, Chiara, Sacher, Michael
Published in Journal of inherited metabolic disease (01.03.2023)
Published in Journal of inherited metabolic disease (01.03.2023)
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Journal Article
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, Miroslav P., Saint‐Dic, Djenann, Zardoui, Khashayar, Klopstock, Thomas, Law, Christopher, Distelmaier, Felix, Sacher, Michael
Published in Journal of inherited metabolic disease (01.03.2021)
Published in Journal of inherited metabolic disease (01.03.2021)
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Journal Article