Purkinje cell-specific deficiency in SEL1L-hrd1 endoplasmic reticulum-associated degradation causes progressive cerebellar ataxia in mice.

Autor: Torres M; Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, Virginia, USA., Pederson B; Department of Molecular & Integrative Physiology, University of Michigan Medical School, Ann Arbor, Michigan, USA., Wang H; Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, Virginia, USA., Lin LL; Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, Virginia, USA., Wang HH; Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, Virginia, USA., Bugarin-Lapuz A; Department of Molecular & Integrative Physiology, University of Michigan Medical School, Ann Arbor, Michigan, USA., Zhao Z; Zilkha Neurogenetic Institute, Keck School of Medicine of USC, Los Angeles, California, USA., Qi L; Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, Virginia, USA.; Department of Molecular & Integrative Physiology, University of Michigan Medical School, Ann Arbor, Michigan, USA.

Publikováno v: JCI insight [JCI Insight] 2024 Nov 08; Vol. 9 (21). Date of Electronic Publication: 2024 Nov 08.

Regulation of hepatic inclusions and fibrinogen biogenesis by SEL1L-HRD1 ERAD.

Autor: Song Z; Department of Pharmacology, University of Virginia School of Medicine, Charlottesville, VA, 22908, USA.; Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, 48201, USA., Thepsuwan P; Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, 48201, USA., Hur WS; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27514, USA.; Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27514, USA.; UNC Blood Research Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27514, USA., Torres M; Department of Molecular & Integrative Physiology, University of Michigan Medical School, Ann Arbor, MI, 48105, USA., Wu SA; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA, 22908, USA., Wei X; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA, 22908, USA., Tushi NJ; Department of Pharmacology, University of Virginia School of Medicine, Charlottesville, VA, 22908, USA.; Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, 48201, USA., Wei J; Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.; Department of Cardiovascular Sciences and Center for Metabolic Disease Research, Lewis Katz School of Medicine, Temple University, Philadelphia, PA, USA., Ferraresso F; Blood Research Institute, Versiti Blood Center of Wisconsin, Milwaukee, WI, 53226, USA.; Departments of Surgery, Biochemistry, Biomedical Engineering, and Pharmacology and Toxicology, Medical College of Wisconsin, Milwaukee, WI, 53226, USA., Paton AW; Research Centre for Infectious Diseases, Department of Molecular and Biomedical Science, University of Adelaide, Adelaide, South Australia, 5005, Australia., Paton JC; Research Centre for Infectious Diseases, Department of Molecular and Biomedical Science, University of Adelaide, Adelaide, South Australia, 5005, Australia., Zheng Z; Blood Research Institute, Versiti Blood Center of Wisconsin, Milwaukee, WI, 53226, USA.; Department of Medicine, Medical College of Wisconsin, Milwaukee, WI, 53226, USA., Zhang K; Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, 48201, USA., Fang D; Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA., Kastrup CJ; Blood Research Institute, Versiti Blood Center of Wisconsin, Milwaukee, WI, 53226, USA.; Departments of Surgery, Biochemistry, Biomedical Engineering, and Pharmacology and Toxicology, Medical College of Wisconsin, Milwaukee, WI, 53226, USA., Jaiman S; Department of Pathology, Wayne State University School of Medicine, Detroit, MI, 48201, USA., Flick MJ; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27514, USA.; Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27514, USA.; UNC Blood Research Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27514, USA., Sun S; Department of Pharmacology, University of Virginia School of Medicine, Charlottesville, VA, 22908, USA. bjk5fz@virginia.edu.; Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, 48201, USA. bjk5fz@virginia.edu.

Publikováno v: Nature communications [Nat Commun] 2024 Oct 26; Vol. 15 (1), pp. 9244. Date of Electronic Publication: 2024 Oct 26.

Tapasin assembly surveillance by the RNF185/Membralin ubiquitin ligase complex regulates MHC-I surface expression.

Autor: van de Weijer ML; Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford, OX1 3RE, UK., Samanta K; Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford, OX1 3RE, UK., Sergejevs N; Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford, OX1 3RE, UK., Jiang L; Degenerative Diseases Program, Genetics, and Aging Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, 92037, USA.; Altos Labs-Bay Institute of Science, Redwood City, CA, USA., Dueñas ME; Biosciences Institute, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.; Telethon Kids Institute, Perth, Nedlands, WA, 6009, Australia., Heunis T; Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford, OX1 3RE, UK.; Immunocore Ltd, 92 Park Drive, Abingdon, OX14 4RY, UK., Huang TY; Degenerative Diseases Program, Genetics, and Aging Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, 92037, USA., Kaufman RJ; Degenerative Diseases Program, Genetics, and Aging Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, 92037, USA., Trost M; Biosciences Institute, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK., Sanyal S; Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford, OX1 3RE, UK., Cowley SA; Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford, OX1 3RE, UK.; James and Lillian Martin Centre for Stem Cell Research, Sir William Dunn School of Pathology, University of Oxford, Oxford, UK., Carvalho P; Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford, OX1 3RE, UK. pedro.carvalho@path.ox.ac.uk.

Publikováno v: Nature communications [Nat Commun] 2024 Oct 01; Vol. 15 (1), pp. 8508. Date of Electronic Publication: 2024 Oct 01.

The degradation of TYR variants derived from Chinese OCA families is mediated by the ERAD and ERLAD pathway.

Autor: Wang X; Shanghai Key Laboratory of Anesthesiology and Brain Functional Modulation, Clinical Research Center for Anesthesiology and Perioperative Medicine, Translational Research Institute of Brain and Brain-Like Intelligence, Department of Pediatrics, Shanghai Fourth People's Hospital, School of Medicine, Tongji University, Shanghai 200434, China; Institute of Medical Genetics, Department of Child, Adolescent and Maternal Health, School of Public Health and General Medicine, School of Medicine, Tongji University, Shanghai 200092, China., Liu K; Shanghai Key Laboratory of Anesthesiology and Brain Functional Modulation, Clinical Research Center for Anesthesiology and Perioperative Medicine, Translational Research Institute of Brain and Brain-Like Intelligence, Department of Pediatrics, Shanghai Fourth People's Hospital, School of Medicine, Tongji University, Shanghai 200434, China; Institute of Medical Genetics, Department of Child, Adolescent and Maternal Health, School of Public Health and General Medicine, School of Medicine, Tongji University, Shanghai 200092, China., Meng Y; Shanghai Key Laboratory of Anesthesiology and Brain Functional Modulation, Clinical Research Center for Anesthesiology and Perioperative Medicine, Translational Research Institute of Brain and Brain-Like Intelligence, Department of Pediatrics, Shanghai Fourth People's Hospital, School of Medicine, Tongji University, Shanghai 200434, China; Institute of Medical Genetics, Department of Child, Adolescent and Maternal Health, School of Public Health and General Medicine, School of Medicine, Tongji University, Shanghai 200092, China., Chen J; Shanghai Key Laboratory of Anesthesiology and Brain Functional Modulation, Clinical Research Center for Anesthesiology and Perioperative Medicine, Translational Research Institute of Brain and Brain-Like Intelligence, Department of Pediatrics, Shanghai Fourth People's Hospital, School of Medicine, Tongji University, Shanghai 200434, China; Institute of Medical Genetics, Department of Child, Adolescent and Maternal Health, School of Public Health and General Medicine, School of Medicine, Tongji University, Shanghai 200092, China. Electronic address: chenjianjun@tongji.edu.cn., Zhong Z; Shanghai Key Laboratory of Anesthesiology and Brain Functional Modulation, Clinical Research Center for Anesthesiology and Perioperative Medicine, Translational Research Institute of Brain and Brain-Like Intelligence, Department of Pediatrics, Shanghai Fourth People's Hospital, School of Medicine, Tongji University, Shanghai 200434, China; Institute of Medical Genetics, Department of Child, Adolescent and Maternal Health, School of Public Health and General Medicine, School of Medicine, Tongji University, Shanghai 200092, China. Electronic address: zhong_emily@sina.com.

Publikováno v: Gene [Gene] 2025 Jan 10; Vol. 932, pp. 148907. Date of Electronic Publication: 2024 Aug 30.

Membralin is required for maize development and defines a branch of the endoplasmic reticulum-associated degradation pathway in plants.

Autor: Liu B; The Key Laboratory of Plant Development and Environment Adaptation Biology, Ministry of Education, School of Life Science, Shandong University, Qingdao 266237, China., Xu C; School of Life Sciences, Southwest University, Chongqing 400715, China., He Q; Science and Technology Service Platform, Qilu University of Technology (Shandong Academy of Sciences), Jinan 250103, China., Zhang K; The Key Laboratory of Plant Development and Environment Adaptation Biology, Ministry of Education, School of Life Science, Shandong University, Qingdao 266237, China., Qi S; The Key Laboratory of Plant Development and Environment Adaptation Biology, Ministry of Education, School of Life Science, Shandong University, Qingdao 266237, China., Jin Z; The Key Laboratory of Plant Development and Environment Adaptation Biology, Ministry of Education, School of Life Science, Shandong University, Qingdao 266237, China., Cheng W; Maize Institute of Shandong Academy of Agricultural Sciences, Jinan, Shandong 250100, China., Ding Z; Maize Institute of Shandong Academy of Agricultural Sciences, Jinan, Shandong 250100, China., Chen D; The Key Laboratory of Plant Development and Environment Adaptation Biology, Ministry of Education, School of Life Science, Shandong University, Qingdao 266237, China., Zhao X; State Key Laboratory of Crop Biology, College of Life Sciences, Shandong Agricultural University, Taian, Shandong 271018, China., Zhang W; The Key Laboratory of Plant Development and Environment Adaptation Biology, Ministry of Education, School of Life Science, Shandong University, Qingdao 266237, China., Zhang K; The Key Laboratory of Plant Development and Environment Adaptation Biology, Ministry of Education, School of Life Science, Shandong University, Qingdao 266237, China., Li K; The Key Laboratory of Plant Development and Environment Adaptation Biology, Ministry of Education, School of Life Science, Shandong University, Qingdao 266237, China.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Jun 18; Vol. 121 (25), pp. e2406090121. Date of Electronic Publication: 2024 Jun 12.