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Academic Journal

Hypomorphic human SEL1L and HRD1 variants uncouple multilayered ER-associated degradation machinery.

Subjects: Endoplasmic Reticulum-Associated Degradation* ; Proteins*/Proteins*/Proteins*/genetics ; Proteins*/Proteins*/Proteins*/metabolism

  • Source: The Journal of clinical investigation [J Clin Invest] 2024 Jan 16; Vol. 134 (2). Date of Electronic Publication: 2024 Jan 16.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model:

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Academic Journal

Atrogin-1 promotes muscle homeostasis by regulating levels of endoplasmic reticulum chaperone BiP.

  • Authors : Ruparelia AA; Australian Regenerative Medicine Institute, Monash University, Clayton, Victoria, Australia.; Department of Anatomy and Physiology, School of Biomedical Sciences, Faculty of Medicine Dentistry and Health Sciences, and.

Subjects: Zebrafish* ; SKP Cullin F-Box Protein Ligases*/SKP Cullin F-Box Protein Ligases*/SKP Cullin F-Box Protein Ligases*/metabolism ; SKP Cullin F-Box Protein Ligases*/SKP Cullin F-Box Protein Ligases*/SKP Cullin F-Box Protein Ligases*/genetics

  • Source: JCI insight [JCI Insight] 2024 Mar 26; Vol. 9 (8). Date of Electronic Publication: 2024 Mar 26.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model:

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Academic Journal

Integration of ER protein quality control mechanisms defines β cell function and ER architecture.

  • Authors : Shrestha N; Department of Molecular and Integrative Physiology, University of Michigan Medical School, Ann Arbor, Michigan, USA.; Division of Metabolism, Endocrinology & Diabetes, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan, USA.

Subjects: Endoribonucleases*/Endoribonucleases*/Endoribonucleases*/metabolism ; Endoplasmic Reticulum-Associated Degradation*; Mice

  • Source: The Journal of clinical investigation [J Clin Invest] 2023 Jan 03; Vol. 133 (1). Date of Electronic Publication: 2023 Jan 03.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model:

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Academic Journal

Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.

  • Authors : Wang HH; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, University of Virginia, Charlottesville, Virginia, USA.; Department of Molecular & Integrative Physiology and.

Subjects: Endoplasmic Reticulum-Associated Degradation*/Endoplasmic Reticulum-Associated Degradation*/Endoplasmic Reticulum-Associated Degradation*/genetics ; Neurodevelopmental Disorders*/Neurodevelopmental Disorders*/Neurodevelopmental Disorders*/genetics; Animals

  • Source: The Journal of clinical investigation [J Clin Invest] 2024 Jan 16; Vol. 134 (2). Date of Electronic Publication: 2024 Jan 16.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model:

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Academic Journal

The loss-of-function PCSK9Q152H variant increases ER chaperones GRP78 and GRP94 and protects against liver injury.

  • Authors : Lebeau PF; Department of Medicine, McMaster University, The Research Institute of St. Joe's Hamilton and Hamilton Centre for Kidney Research, Hamilton, Ontario, Canada.; Wassef H

Subjects: Endoplasmic Reticulum*/Endoplasmic Reticulum*/Endoplasmic Reticulum*/genetics ; Endoplasmic Reticulum*/Endoplasmic Reticulum*/Endoplasmic Reticulum*/metabolism ; Endoplasmic Reticulum*/Endoplasmic Reticulum*/Endoplasmic Reticulum*/pathology

  • Source: The Journal of clinical investigation [J Clin Invest] 2021 Jan 19; Vol. 131 (2).Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model:

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Academic Journal

Muscle-specific ER-associated degradation maintains postnatal muscle hypertrophy and systemic energy metabolism.

  • Authors : Abdon B; Department of Molecular & Integrative Physiology, University of Michigan Medical School, Ann Arbor, Michigan, USA.; Liang Y

Subjects: Endoplasmic Reticulum-Associated Degradation* ; Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/metabolism; Humans

  • Source: JCI insight [JCI Insight] 2023 Aug 03; Vol. 8 (17). Date of Electronic Publication: 2023 Aug 03.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model:

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Academic Journal

Type 2 deiodinase polymorphism causes ER stress and hypothyroidism in the brain.

  • Authors : Jo S; Division of Endocrinology and Metabolism, Rush University Medical Center, Chicago, Illinois, USA.; Fonseca TL

Subjects: Brain*/Brain*/Brain*/enzymology ; Brain*/Brain*/Brain*/pathology ; Endoplasmic Reticulum Stress*

  • Source: The Journal of clinical investigation [J Clin Invest] 2019 Jan 02; Vol. 129 (1), pp. 230-245. Date of Electronic Publication: 2018 Dec 03.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model:

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Academic Journal

Localized hypoxia links ER stress to lung fibrosis through induction of C/EBP homologous protein.

  • Authors : Burman A; Department of Cell and Developmental Biology, Vanderbilt University, Nashville, Tennessee, USA.; Kropski JA

Subjects: Endoplasmic Reticulum Stress*; Idiopathic Pulmonary Fibrosis/Idiopathic Pulmonary Fibrosis/Idiopathic Pulmonary Fibrosis/*pathology ; Pulmonary Alveoli/Pulmonary Alveoli/Pulmonary Alveoli/*pathology

  • Source: JCI insight [JCI Insight] 2018 Aug 23; Vol. 3 (16). Date of Electronic Publication: 2018 Aug 23 (Print Publication: 2018).Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model:

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Academic Journal

Thyroid hormone synthesis continues despite biallelic thyroglobulin mutation with cell death.

  • Authors : Zhang X; Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, Michigan, USA.; Kellogg AP

Subjects: Cell Death*; Congenital Hypothyroidism/Congenital Hypothyroidism/Congenital Hypothyroidism/*metabolism ; Endoplasmic Reticulum Stress/Endoplasmic Reticulum Stress/Endoplasmic Reticulum Stress/*genetics

  • Source: JCI insight [JCI Insight] 2021 Jun 08; Vol. 6 (11). Date of Electronic Publication: 2021 Jun 08.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model:

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Academic Journal

Combined immunodeficiency due to a mutation in the γ1 subunit of the coat protein I complex.

  • Authors : Bainter W; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Platt CD

Subjects: Lymphocyte Activation* ; Mutation, Missense*; Apoptosis/Apoptosis/Apoptosis/*immunology

  • Source: The Journal of clinical investigation [J Clin Invest] 2021 Feb 01; Vol. 131 (3).Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model:

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  • 1-10 of  382 results for ""ENDOPLASMIC reticulum""