De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Autor: Daniëlle G. M. Bosch, Nicole Corsten-Janssen, Colin A Ellis, Dirk Lefeber, Alfredo Brusco, Irene Bagnasco, Andrea Accogli, Ellen Macnamara, Carlo Di Bonaventura, Giovanna Zorzi, Scott Demarest, Erik A. Eklund, Noëlle Mercier, Carlo Marcelis, Rong Zhang, Ban H Edani, Camilo Toro, Ziv Gan-Or, Simone Pizzi, Kariona A. Grabińska, Nienke E. Verbeek, Karen W. Gripp, Simone Martinelli, Caterina Caputi, Luca Pannone, Marco Tartaglia, Felix Distelmaier, Louise Amlie-Wolf, Luisa Averdunk, Anne-Sophie Alaix, Renzo Guerrini, Laura Masuelli, Marwan Shinawi, Sunita Venkateswaran, Joseph Peeden, Hana Hansikova, Lucie Zdrazilova, William C. Sessa, Serena Galosi, Renske Oegema, Patricia G Wheeler, Kristin W. Barañano, Vincenzo Leuzzi, Frances Elmslie, Fadi F. Hamdan, Roberto Bei, Jean-Marc Good, Isis Atallah, Myriam Srour, Erik-Jan Kamsteeg

Publikováno v: Brain, 145, 1, pp. 208-223
Brain
Brain, 145(1), 208-223. Oxford University Press
Brain, vol. 145, no. 1, pp. 208-223
Brain, 145, 208-223

Subcellular membrane systems are highly enriched in dolichol, whose role in organelle homeostasis and endosomal-lysosomal pathway remains largely unclear besides being involved in protein glycosylation. DHDDS encodes for the catalytic subunit (DHDDS)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::012cb40531119a7d00e4415b8540c52c
https://research.rug.nl/en/publications/50de5bd9-24f7-4573-b0f2-fed69db9588d

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Autor: Leanne M. Dibbens, Anna-Elina Lehesjoki, Roberto Michelucci, Aarno Palotie, Barbara Castellotti, Jillian M. Cameron, Amos D. Korczyn, Loretta Giuliano, Davide Uccellini, Alessandro Filla, Edith Said, Karen Oliver, Zaid Afawi, William C. Sessa, Hui Bein Chew, Silvana Franceschetti, Carlo Di Bonaventura, Eva Andermann, Anna Teresa Giallonardo, Angelo Labate, Samuel F. Berkovic, Betül Baykan, Kariona A. Grabińska, Carolina Courage, Patrizia Riguzzi, Melanie Bahlo, Antonio Gambardella, John A. Damiano, Laura Canafoglia, Tarja Joensuu, Pasquale Striano, Christopher B. Jackson, Mikko Muona, Christian Brandt, Chiara Criscuolo, Sara Kivity, Eon Joo Park, Ingrid E. Scheffer, Géza Berecki

Publikováno v: Am J Hum Genet

Progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous rare diseases. Over 70% of PME cases can now be molecularly solved. Known PME genes encode a variety of proteins, many involved in lysosomal and endo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f932a416de210b04bfdbaee703d7f1d
https://pubmed.ncbi.nlm.nih.gov/33798445

Long-Chain Polyprenols Promote Spore Wall Formation in Saccharomyces cerevisiae

Autor: Aaron M. Neiman, William C. Sessa, Kariona A. Grabińska, Reuben Hoffmann, Ziqiang Guan

Publikováno v: Genetics. 207:1371-1386

Dolichols are isoprenoid lipids of varying length that act as sugar carriers in glycosylation reactions in the endoplasmic reticulum. In Saccharomyces cerevisiae, there are two cis-prenyltransferases that synthesize polyprenol—an essential precurso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9c0aa17500afd7ea445a537fd8c33ba0
https://doi.org/10.1534/genetics.117.300322

Ng BR is essential for endothelial cell glycosylation and vascular development

Autor: Kariona A. Grabińska, Ziqiang Guan, Eon Joo Park, William C. Sessa

Publikováno v: EMBO reports. 17:167-177

NgBR is a transmembrane protein identified as a Nogo-B-interacting protein and recently has been shown to be a subunit required for cis-prenyltransferase (cisPTase) activity. To investigate the integrated role of NgBR in vascular development, we have

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6440fd38111bc656e08c1d0db2272524
https://doi.org/10.15252/embr.201540789

Purification of the mammalian NgBR/hCITcis-prenyltransferase complex: Identification of a conserved carboxyterminal RxG motif crucial for enzymatic activity

Autor: Jan R. Kraehling, Bill Sessa, Ban H Edani, Kariona A. Grabińska, Eon Joo Park

SummaryCis-Prenyltransferases (cisPTs) constitute a large family of enzymes conserved during evolution and present in all domains of life. In eukaryotes and archaea,cisPT is the first enzyme committed to the synthesis of dolichyl-phosphate (DolP). Do

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eeede5f8f6a7a31ad39af545d3b0c642
https://doi.org/10.1101/139675