TRAPPC11 functions in autophagy by recruiting ATG2B-WIPI4/WDR45 to preautophagosomal membranes

Autor: Stanga D, Zhao Q, Milev MP, Saint-Dic D, Jimenez-Mallebrera C, Sacher M

Publikováno v: Traffic
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::933a1f1bda92c9ad53ca47d5724f365c
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16048

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.

Autor: Rawlins LE; RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, United Kingdom., Almousa H; Department of Biology, Concordia University, Montreal, Quebec, Canada., Khan S; RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom.; Department of Biological Sciences, International Islamic University, Islamabad, Pakistan., Collins SC; Institute of Genetics and Molecular and Cellular Biology, Inserm, Illkirch, France.; Inserm, University of Bourgogne Franche-Comté, Dijon, France., Milev MP; Department of Biology, Concordia University, Montreal, Quebec, Canada., Leslie J; RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom., Saint-Dic D; Department of Biology, Concordia University, Montreal, Quebec, Canada., Khan V; Department of Molecular Diagnostics, Rehman Medical Institute, Peshawar, Pakistan., Hincapie AM; Department of Biology, Concordia University, Montreal, Quebec, Canada., Day JO; RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom.; Faculty of Health, University of Plymouth, Plymouth, United Kingdom., McGavin L; University Hospitals Plymouth NHS Trust, Plymouth, United Kingdom., Rowley C; Wellcome Sanger Institute, Hinxton, Cambridge, United Kingdom., Harlalka GV; RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom.; Department of Pharmacology, Rajarshi Shahu College of Pharmacy, Malvihir, Buldana, India., Vancollie VE; Wellcome Sanger Institute, Hinxton, Cambridge, United Kingdom., Ahmad W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Lelliott CJ; Wellcome Sanger Institute, Hinxton, Cambridge, United Kingdom., Gul A; Department of Biological Sciences, International Islamic University, Islamabad, Pakistan., Yalcin B; Institute of Genetics and Molecular and Cellular Biology, Inserm, Illkirch, France.; Inserm, University of Bourgogne Franche-Comté, Dijon, France., Crosby AH; RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom., Sacher M; Department of Biology, Concordia University, Montreal, Quebec, Canada.; Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, Canada., Baple EL; RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, United Kingdom.

Publikováno v: PLoS genetics [PLoS Genet] 2022 Mar 17; Vol. 18 (3), pp. e1010114. Date of Electronic Publication: 2022 Mar 17 (Print Publication: 2022).

Bacterial cupredoxin azurin as an inducer of apoptosis and regression in human breast cancer

Autor: Punj, V., Bhattacharyya, S., Saint-Dic, D., Vasu, C., Cunningham, E. A., Graves, J., Yamada, T., Constantinou, Andreas I., Christov, K., White, B., Li, G., Majumdar, D., Chakrabarty, A. M., Das Gupta, T. K.

Publikováno v: Oncogene

Azurin, a copper-containing redox protein released by the pathogenic bacterium Pseudomonas aeruginosa, is highly cytotoxic to the human breast cancer cell line MCF-7, but is less cytotoxic toward p53-negative (MDA-MB-157) or nonfunctional p53 cell li

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36b6a74142d99786973bdab5669dffe3
https://doi.org/10.1038/sj.onc.1207376

Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.

Autor: Milev MP; Department of Biology, Concordia University, Montreal, QC, Canada., Stanga D; Department of Biology, Concordia University, Montreal, QC, Canada., Schänzer A; Institute of Neuropathology, Justus Liebig University Giessen, Giessen, Germany., Nascimento A; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; U705 and U703 Center for Biomedical Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Saint-Dic D; Department of Biology, Concordia University, Montreal, QC, Canada., Ortez C; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Natera-de Benito D; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Barrios DG; Servicio de Pediatría, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain., Colomer J; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Badosa C; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Jou C; U705 and U703 Center for Biomedical Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Pathology Department and Biobank, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Gallano P; U705 and U703 Center for Biomedical Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Servicio de Genética, Hospital de La Santa Creu I Sant Pau, Barcelona, Spain., Gonzalez-Quereda L; U705 and U703 Center for Biomedical Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Servicio de Genética, Hospital de La Santa Creu I Sant Pau, Barcelona, Spain., Töpf A; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK., Johnson K; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK.; Institute of Cellular Medicine, Newcastle University, Newcastle-upon-Tyne, UK., Straub V; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK., Hahn A; Department of Child Neurology, Justus Liebig University Giessen, Giessen, Germany. Andreas.Hahn@paediat.med.uni-giessen.de., Sacher M; Department of Biology, Concordia University, Montreal, QC, Canada. michael.sacher@concordia.ca.; Department of Anatomy and Cell Biology, McGill University, Montreal, QC, Canada. michael.sacher@concordia.ca., Jimenez-Mallebrera C; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. cjimenezm@fsjd.org.; U705 and U703 Center for Biomedical Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. cjimenezm@fsjd.org.

Publikováno v: Scientific reports [Sci Rep] 2020 Nov 10; Vol. 10 (1), pp. 19770. Date of Electronic Publication: 2020 Nov 10.

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.

Autor: Milev MP; Concordia University, Department of Biology, Montreal, Quebec, Canada., Stanga D; Concordia University, Department of Biology, Montreal, Quebec, Canada., Schänzer A; Institute of Neuropathology, Justus Liebig University Giessen, Giessen, Germany., Nascimento A; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; U705 and U703 Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Saint-Dic D; Concordia University, Department of Biology, Montreal, Quebec, Canada., Ortez C; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Natera-de Benito D; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Barrios DG; Servicio de Pediatría, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain., Colomer J; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Badosa C; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Jou C; U705 and U703 Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Pathology Department and Biobank, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Gallano P; U705 and U703 Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Servicio de Genética, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain., Gonzalez-Quereda L; U705 and U703 Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Servicio de Genética, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain., Töpf A; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK., Johnson K; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK.; Institute of Cellular Medicine, Newcastle University, Newcastle-upon-Tyne, UK., Straub V; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK., Hahn A; Department of Child Neurology, Justus Liebig University Giessen, Giessen, Germany. Andreas.Hahn@paediat.med.uni-giessen.de., Sacher M; Concordia University, Department of Biology, Montreal, Quebec, Canada. michael.sacher@concordia.ca.; McGill University, Department of Anatomy and Cell Biology, Montreal, Quebec, Canada. michael.sacher@concordia.ca., Jimenez-Mallebrera C; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. cjimenezm@fsjd.org.; U705 and U703 Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. cjimenezm@fsjd.org.

Publikováno v: Scientific reports [Sci Rep] 2019 Oct 01; Vol. 9 (1), pp. 14036. Date of Electronic Publication: 2019 Oct 01.