Sacher Lab: Publications


PDF files are linked after each reference

2023

Almousa,H., Lewis,S.A., Bakhtiari,S., Nordlie,S.H., Pagnozzi,A., Magee,H., Efthymiou,S., Heim,J.A., Cornejo,P., Zaki,M.S., Anwar,N., Maqbool,S., Rahman,F., Neilson,D.E., Vemuri,A., Jin,S.C., Yang,X-R., Heidari,A.,  van Gassen,K., Trimouille,A., Thauvin-Robinet,C., Liu,J., Bruel,A-L., Tomoum,H., Shata,M.O., Hashem,M.O., Toosi,M.B., Karimiani,E.G., Yeşil,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,J.B., Innes,A.M., Dursun,A., Özgül,R.K., Akar,H.T., Bilguvar,K., Mignot,C., Keren,B., Raveli,C., Burglen,L., Afenjar,A., Kaat,L.D., van Slegtenhorst,M., Alkuraya,F., Houlden,H., Padilla-Lopez,S., Maroofian,R., Sacher,M., and Kruer,M.C. (2023) TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions. Brain (in press) PDF

Mansur,A., Joseph,R., Kim,E.S., Jean-Beltran,P.M., Udeshi,N.D., Pearce,C., Jiang,H., Iwase,R., Almousa,H., Milev,M.P., McNamara,E., Widrick,J., Perez,C., Ravenscroft,G., Sacher,M., Cole,P.A., Carr,S.A., and Gupta,V.A (2023) Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset. eLife 12:e81966 PDF

Asadi,P., Milev,M.P., Saint-Dic,D., Gamberi,C. and Sacher,M. (2023) Vitamin B5, a Coenzyme A precursor, rescues TANGO2 deficiency disease-associated defects in Drosophila and human cells. J. Inherit. Metab. Dis. 46, 358-368 PDF

2022

Miyake,C.Y., Lay,E.J., Soler-Alfonso,C., Glinton,K.E., Houck,K., Tosur,M., Moran,N.E., Stephens,S.B., Scaglia,F., Howard,T.S. Kim,J.J., Pham,T.D., Valdes,S.O., Li,N., Murali,C., Zhang,L., Jardine,K., Kava,M., Yim,D., Beach,C., Webster,G., Liberman,L., Janson,C., Kannankeril,P.J., Baxter,S., Singer-Berk,M., Wood,J., MacKenzie,S., Sacher,M., Gonzalez,L., Pedroza,C., Morris,S.A., Ehsan,S.A., Azamian,M., and Lalani,S.R. (2022) Natural History of TANGO2 deficiency disorder: baseline assessment of 73 patients. Gent. Med. 52(4), 100352 PDF

Rawlins,L.E., Almousa,H., Khan,S., Collins,S.C., Milev,M.P., Leslie,J., Saint-Dic,D., Khan,V., Hincapie,A.M., O’Day,J., McGavin,L., Rowley,C., Harlalka,G.V., Vancollie,V.E., Ahmed,W., Lelliott,C.J., Gul,A., Yalcin,B., Crosby,A.H., Sacher,M. and Baple,E.L. (2022) Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice. PLoS Genetics 18(3), e1010114 PDF

2021

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,M.P., Liang,W.-C., Maruyama,S., Nishino,I., Sacher,M., Phadke,R. and Muntoni,F. (2021) TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain. Neuropath. Appl. Neurobiol. 48(2), e12771 PDF

2020

Milev,M.P., Saint-Dic,D., Zardoui,K., Klopstock,T., Law,C., Distelmaier,F. and Sacher,M. (2020) 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 J. Inherit. Metab. Dis. 44, 426-437 PDF

Al-Deri,N., Okur,V., Ahimaz,P., Milev,M., Valivullah,Z.M., Hagen,J., Shen,Y. Chung,W.K., Sacher,M. and Ganapathi,M. (2020) A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function J. Med. Genet. 58, 592-601 PDF

Lipatova,Z., Van Bergen,N., Stanga,D., Sacher,M., Christodoulou,J. and Segev,N. (2020) TRAPPing a neurological disorder: from yeast to humans. Autophagy 16, 965-966 PDF

Van Bergen,N.J., Guo,Y., Al-Deri,N., Lipatova,Z., Stanga,D., Murtazina,R., Gyurkovska,V., Zhao,S., Pehlivan,D., Mitani,T., Gezdirici,A., Antony,J., Collins,F., Willis,M.J.H., Akdemir,Z.H.C., Liu,P., Punetha,J., Hunter,J.V., Jhangiani,S.N., Fatih,J.M., Rosenfeld,J.A., Posey,J.E., Gibbs,R.A., Massey,S., Ranasinghe,T.G., Sleiman,P., Wilson,K., Troedson,C., Lupski,J.R., Sacher,M., Segev,N., Hakonarson,H. and Christodoulou,J. (2019) Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain 143, 112-130 PDF

2019

Milev,M.P., Stanga,D., Schänzer,A., Nasciemento,A., Saint-Dic,D., Ortez,C., Natera-de-Benito,D., González Barrios, D., Colomer,J., Badosa,C., Jou,C., Gallano,P., Gonzalez-Quereda,L., Töpf,A., Johnson,K., Straub,V., Hahn,A., Sacher,M. and Jimenez-Mallebrera,C. (2019) Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein. Sci. Rep. 9, 14036 PDF

Stanga,D., Zhao,Q., Milev,M.P., Saint-Dic,D., Mallebrera,C.J. and Sacher,M. (2019) TRAPPC11 functions in autophagy by recruiting ATG2B-WIPI4/WDR45 to preautophagosomal membranes. Traffic 20, 325-345 PDF

Sacher,M., Shahrzad,N., Kamel,H. and Milev,M.P. (2019) TRAPPopathies, an emerging set of disorders linked to variations in transport protein particle (TRAPP)-associated proteins.  Traffic 20, 5-26  PDF

2018

Larson,A.A., Baker II,P.R., Milev,M.P., Press,C.A., Sokol,R.J., Cox,M.O., Lekostaj,J.K., Stence,A.A., Bossler,A.D., Mueller,J.M., Prematilake,K., Tadjo,T.F., Williams,C.A., Sacher,M. and Moore,S.A. (2018) TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy. Skeletal Muscle 8, 17  PDF

Milev,M.P., Graziano,C.,  Karall,D., Kuper,W.F.E., Al-Deri,N., Cordelli,D.M., Haack,T.B., Danhauser,K., Iuso,A., Palombo,F., Pippucci,T., Prokisch,H., Saint-Dic,D., Seri,M., Stanga,D., Cenacchi,G., van Gassen,K.L.I., Zschocke,J., Fauth,C., Mayr,J.A., Sacher,M. and van Hasselt,P.M. (2018) Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder of varying severity and have an impact on Rab11 in fibroblasts. J. Med. Genet. 55, 753-764  PDF

2017

Milev,M.P., Grout,M.E., Saint-Dic,D., Cheng,Y.-H.H. Glass,I.A., Hale,C.J., Hanna,D.S., Dorschner,M.O., Prematilake,K., Shaag,A., Elpeleg,O., Sacher,M., Doherty,D. and Edvardson,S. (2017) Mutations in TRAPPC12 manifest by progressive childhood encephalopathy and Golgi dysfunction. Am. J. Hum. Genet.101, 291-299  PDF

Koehler,K., Milev,M., Prematilake,K., Reschke,F., Kutzner,S., Landgraf,D., Utine,E., Hazan,F., Diniz,G., Schuelke,M., Huebner,A. and Sacher,M. (2017) A novel TRAPPC11 mutation in two Turkish families with cerebral atrophy, global retardation, therapy refractory seizures, achalasia and alacrimia J. Med. Genet.54, 176-185 PDF

2016

Brunet.S., Saint-Dic,D., Milev,M.P., Nilsson,T. and Sacher,M. (2016) The TRAPP subunit Trs130p interacts with the GAP Gyp6p to mediate Ypt6p dynamics at the late Golgi Front. Cell. Dev. Biol. 4, 1-13 PDF

DeRossi,C.,  Vacaru,A., Rafiq,A., Cinaroglu,A., Imrie,D., Nayar,S., Milev,M.P., Stanga,D.,  Kadakia,D., Gao,N.,  Chu,J., Freeze,H., Lehrman,M., Sacher,M. and Sadler,K.C. (2016) trappc11 is required for protein glycosylation in zebrafish and humans Mol. Biol. Cell 27, 1220-1234 PDF

Klionsky,D.J. et al. (2016) Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy 12, 1-222 PDF

2015

Liang,W.-C., Zhu,W., Mitsuhashi,S., Noguchi,S., Sacher,M., Ogawa,M., Shih,H.-H., Jong,Y.-J. and Nishino,I. (2015) Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype Skeletal Muscle 5, 1-6 PDF

Milev,M.P. and Sacher,M. (2015) Mitotic transformation of the membrane trafficking protein TRAMM/TrappC12 Oncotarget 6, 17853-17854 PDF

Milev,M.P. and Sacher,M. (2015) TRAMM, a new player in CENP-E biology Mol. Cell. Oncol. 3, 1-2 PDF

Milev,M.P., Hasaj,B., Saint-Dic,D., Snounou,S., Zhao,Q. and Sacher,M. (2015) TRAMM/TrappC12 plays a role in chromosome congression, kinetochore stability and CENP-E recruitment J. Cell Biol. 209, 221-234 PDF

2014

Brunet,S. and Sacher,M. (2014) Are all multisubunit tethering complexes bona fide tethers? Traffic 15, 1282-1287 PDF

Brunet,S. and Sacher,M. (2014) In sickness and in health: The role of TRAPP and associated proteins in disease. Traffic 15, 803-818 PDF

2013

Bögershausen,N., Shahrzad,N., Chong,J.X.,  von Kleist-Retzow,J.-C., Stanga,D.,  Li,Y.,  Bernier,F.P., Loucks,C.M., Wirth,R., Puffenberger,E.G., Hegele,R., Schreml,J., Lapointe,G., Keupp,K., Brett,C.L., Anderson,R., Hahn,A., Innes,A.M., Suchowersky,O., Mets,M.B., Nürnberg,G., McLeod,D.R., Thiele,H., Waggoner,D., Altmüller,J., Boycott,K.M., Schoser,B., Nürnberg,P., Ober,C., Heller,R., Parboosingh,J.S., Wollnik,B., Sacher,M. and Lamont,R.E. (2013) Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am. J. Hum. Genet. 93, 181-190 PDF

Brunet,S., Shahrzad,N., St.-Dic,D., Dutczak,H. and Sacher,M. (2013) A trs20 mutation in Saccharomyces cerevisiae that mimics an SEDT-causing mutation destabilizes TRAPP III and blocks both selective and non-selective autophagy: a model for TRAPP III organization. Traffic 19, 1091-1104 PDF

2012

Brunet,S., Noueihed,B., Shahrzad,N., Saint-Dic,D., Hasaj,B., Guan,T.-L., Moores,A., Barlowe,C. and Sacher,M. (2012) The SMS domain of Trs23p is responsible for the in vitro appearance of the TRAPP I complex in Saccharomyces cerevisiae Cell. Log. 2, 28-42 PDF

2011

Duarte,D.T., Hul,S. and Sacher,M. (2011) A yeast two hybrid screen identifies SPATA4 as a TRAPP interactor FEBS Letters 585, 2676-2681 PDF

Scrivens,P.J., Noueihed,B., Shahrzad,N., Hul,S., Brunet,S. and Sacher,M. (2011) C4orf41 and TTC-15 are mammalian TRAPP components with a role in an early stage in ER-to-Golgi trafficking Mol. Biol. Cell, 22, 2083-2093 PDF

2010

Sacher,M. (2010) This article contains supplementary information...or not. Cellular Logistics 1, 4-5 PDF

2009

Morin,A., Moores,A. and Sacher,M. (2009) Dissection of Saccharomyces cerevisiae asci Journal of Visualized Experiments, 27, pii 1146

Scrivens,P.J., Shahrzad,N., Moores,A., Morin,A., Brunet,S. and Sacher,M. (2009) TRAPPC2L is a novel, highly conserved TRAPP-interacting protein Traffic, 10, 724-736 PDF

2008

Sacher,M., Kim,Y.-G., Lavie,A., Oh,B.-H. and Segev,N. (2008) The TRAPP complex: insights into its architecture and function Traffic, 9, 2032-2042 PDF

2006

Kim,Y.-G., Raunser,S., Munger,C., Wagner,J., Song,Y.-L., Cygler,M., Walz,T., Oh,B.-H. and Sacher,M. (2006) The architecture of the multisubunit TRAPP I complex suggests a model for vesicle tethering Cell 127, 817-830 PDF

2005

Kim,M.-S., Yi,M.-J., Lee,K.-H., Wagner,J., Munger,C., Kim,Y.-G., Whiteway,M., Cygler,M., Oh,B.-H. and Sacher,M. (2005) Biochemical and crystallographic studies reveal a specific interaction between TRAPP subunits Trs33p and Bet3p Traffic 6, 1183-1195 PDF

Kim,Y.-G., Sohn,E.J., Seo,J., Lee,K.-J., Lee,H.-S., Hwang,I., Whiteway,M., Sacher,M. and Oh, B.-H. (2005) Crystal structure of bet3 reveals a novel mechanism for Golgi localization of tethering factor TRAPP Nature Structural and Molecular Biology 12, 38-45 PDF

Sacher,M., Di Bacco,A., Lunin,V., Ye,Z., Wagner,J., Gill,G. and Cygler,M. (2005) The crystal structure of CREG, a secreted glycoprotein involved in cellular growth and differentiation Proceedings of the Natlional Academy of Science USA 102, 18326-18331 PDF

2004

Lunin,V., Munger,C., Wagner,J., Ye,Z., Cygler,M. and Sacher,M. (2004) The structure of the MAPK scaffold, MP1, bound to its partner, p14: A complex with a critical role in endosomal MAP kinase signaling Journal of Biological Chemistry 279, 23422-23430 PDF

2003

Sacher,M. (2003) Membrane traffic fuses with cartilage development FEBS Letters 550, 1-4 PDF

2001

Sacher,M., Barrowman,J., Wang,W., Horecka,J., Zhang,Y., Pypaert,M. and Ferro-Novick,S. (2001) TRAPP I implicated in the specificity of tethering in ER-to-Golgi transport Molecular Cell 7, 433-442 PDF

Kim,D.W., Massey,T., Sacher,M., Pypaert,M., Ferro-Novick,S. (2001) Sgf1p, a new component of the Sec34p/Sec35p complex. Traffic 2, 820-830 PDF

Sacher,M. and Ferro-Novick.S. (2001) Purification of TRAPP from Saccharomyces cerevisiae and identification of its mammalian counterpart. Methods in Enzymology 329, 234-241 PDF

2000

Wang,W., Sacher,M. and Ferro-Novick. (2000) TRAPP stimulates guanine nucleotide exchange on Ypt1p. Journal of Cell Biology, 151, 289-296 PDF

Guo,W., Sacher,M., Barrowman,J., Ferro-Novick,S. and Novick,P. (2000) Protein complexes in transport vesicle targeting. Trends in Cell Biology 10, 251-255 PDF

Barrowman,J., Sacher,M. and Ferro-Novick,S. (2000) TRAPP stably associates with the Golgi and is required for vesicle docking. EMBO Journal 19, 862-869 PDF

Sacher,M., Barrowman,J.,Schieltz,D., Yates III,J.R. and Ferro-Novick.S. (2000) Identification and characterization of five new subunits of TRAPP. European Journal of Cell Biology 79, 71-80 PDF

1988-1999

Kim,D.-W., Sacher,M., Scarpa,A., Quinn,A.M. and Ferro-Novick,S. (1999) High copy suppressor analysis reveals a physical interaction between Sec34p and Sec35p, a protein implicated in vesicle docking. Molecular Biology of the Cell 10, 3317-3329 PDF

Sacher,M., Jiang,Y., Barrowman,J., Scarpa,A., Burston,J., Zhang,L., Schieltz,D., Yates III,J.R., Abeliovich,H. and Ferro-Novick,S. (1998) TRAPP, a highly conserved novel complex on the cis-Golgi that mediates vesicle docking and fusion. EMBO Journal 17, 2494-2503 PDF

Sacher,M., Stone,S. and Ferro-Novick,S. (1997) The synaptobrevin-related domains of Bos1p and Sec22p bind to the syntaxin-like region of Sed5p. Journal of Biological Chemistry 272, 17134-17138 PDF

Stone,S., Sacher,M., Mao,Y., Carr,C., Lyons,P., Quinn,A.M. and Ferro-Novick,S. (1997) Bet1p activates the v-SNARE, Bos1p. Molecular Biology of the Cell 8, 1175-1181 PDF

Athlan,E.S., Sacher,M.G. and Mushynski,W.E. (1997) Associations between intermediate filaments expressed in cultured dorsal root ganglion neurons. Journal of Neuroscience Research 47, 300-310 PDF

Jiang,Y., Sacher,M., Singer-Kruger,B., Lian,J.P., Stone,S. and Ferro-Novick,S. (1996) Factors mediating the late stages of ER to Golgi transport in yeast. Cold Spring Harbor Symposia in Quantitative Biology 60, 119-126 PDF

Sacher,M.G., Athlan,E.S. and Mushynski,W.E. (1995) Phosphorylation of neurofilament proteins. Advances in Neural Science eds. S. Malhotra and G.D. Das, JAI Press 2, 47-65 PDF

Sacher,M.G., Athlan,E.S. and Mushynski,W.E. (1994) Increased phosphorylation of the amino-terminal domain of the low molecular weight neurofilament subunit in okadaic acid-treated neurons. Journal of Biological Chemistry 269, 18,480-18,484 PDF

Sacher,M.G., Athlan,E.S. and Mushynski,W.E. (1992) Okadaic acid induces a rapid and reversible disruption of the neurofilament network in rat dorsal root ganglion neurons. Biochemical and Biophysical Research Communications 186, 524-530 PDF

Georges,E., Lindenbaum,M.L., Sacher,M.G., Trifaró,J-M. and Mushynski,W.E. (1988) Neurofilament phosphorylation in bovine adrenal chromaffin cells is stimulated by phorbol ester. Journal of Neurochemistry 52, 1156-1161 PDF

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