4.7 Article

Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemistry & Molecular Biology

The Human Phenotype Ontology in 2021

Sebastian Koehler et al.

Summary: The Human Phenotype Ontology (HPO) serves as a global standard for phenotype exchange, with recent major extensions in neurology, nephrology, immunology, pulmonology, and other fields. Efforts have been made to improve computational definitions of phenotypic abnormalities across HPO and multiple phenotype ontologies for animal disease models, benefiting software accuracy and cross-species phenotype matching. Recent initiatives include translating HPO into indigenous languages and advancing its use in electronic health record systems.

NUCLEIC ACIDS RESEARCH (2021)

Article Multidisciplinary Sciences

Conserved human effector Treg cell transcriptomic and epigenetic signature in arthritic joint inflammation

Gerdien Mijnheer et al.

Summary: The study illustrates the effector characteristics of human Treg cells under inflammatory conditions and their epigenetic influences, indicating that inflammation-derived Treg cells have specific features and are fine-tuned by environmental adaptations.

NATURE COMMUNICATIONS (2021)

Article Clinical Neurology

NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay

Irena J. J. Muffels et al.

Summary: The identification of NAA80/NAT6 as the enzyme that acetylates actins has provided new insights into post-translational actin modifications. However, the role of NAA80 in human physiology and pathology remains unclear. This study reports individuals with a homozygous NAA80 genetic variant, leading to decreased actin acetylation and disrupted molecular functions. The findings suggest a crucial role for NAA80-mediated actin dynamics in neuronal health, muscle health, and hearing.

BRAIN COMMUNICATIONS (2021)

Article Pathology

Causes of double-negative T-cell lymphocytosis in children and adults

Konstantinos Liapis et al.

JOURNAL OF CLINICAL PATHOLOGY (2020)

Article Endocrinology & Metabolism

Hypothesis: determining phenotypic specificity facilitates understanding of pathophysiology in rare genetic disorders

Hanneke A. Haijes et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2020)

Article Biochemistry & Molecular Biology

Global site-specific neddylation profiling reveals that NEDDylated cofilin regulates actin dynamics

Annette M. Vogl et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2020)

Article Multidisciplinary Sciences

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski et al.

NATURE (2020)

Article Multidisciplinary Sciences

Neddylation is critical to cortical development by regulating Wnt/β-catenin signaling

Lei Zhang et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)

Article Multidisciplinary Sciences

Double-negative T cells remarkably promote neuroinflammation after ischemic stroke

Hailan Meng et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)

Article Genetics & Heredity

Identification of RUNX2 variants associated with cleidocranial dysplasia

Xueren Gao et al.

HEREDITAS (2019)

Article Multidisciplinary Sciences

Neddylation regulates excitatory synaptic transmission and plasticity

Marisa M. Brockmann et al.

SCIENTIFIC REPORTS (2019)

Article Medicine, Research & Experimental

TRAF6 neddylation drives inflammatory arthritis by increasing NF-κB activation

Kewei Liu et al.

LABORATORY INVESTIGATION (2019)

Article Biochemistry & Molecular Biology

Ensembl 2018

Daniel R. Zerbino et al.

NUCLEIC ACIDS RESEARCH (2018)

Article Multidisciplinary Sciences

NEDDylation promotes nuclear protein aggregation and protects the Ubiquitin Proteasome System upon proteotoxic stress

Chantal M. Maghames et al.

NATURE COMMUNICATIONS (2018)

Review Gastroenterology & Hepatology

Neddylation, a novel paradigm in liver cancer

Teresa Cardoso Delgado et al.

TRANSLATIONAL GASTROENTEROLOGY AND HEPATOLOGY (2018)

Article Gastroenterology & Hepatology

Deregulated Neddylation in Liver Fibrosis

Imanol Zubiete-Franco et al.

HEPATOLOGY (2017)

Article Multidisciplinary Sciences

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek et al.

NATURE (2016)

Article Multidisciplinary Sciences

A global reference for human genetic variation

David M. Altshuler et al.

NATURE (2015)

Review Cell Biology

Protein neddylation: beyond cullin-RING ligases

Radoslav I. Enchev et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2015)

Article Immunology

T Cell Factor 1 Represses CD8+ Effector T Cell Formation and Function

Machteld M. Tiemessen et al.

JOURNAL OF IMMUNOLOGY (2014)

Article Oncology

Novel Clinically Relevant Genes in Gastrointestinal Stromal Tumors Identified by Exome Sequencing

Sebastian F. Schoppmann et al.

CLINICAL CANCER RESEARCH (2013)

Article Biochemistry & Molecular Biology

Regulation of parkin and PINK1 by neddylation

Yeun Su Choo et al.

HUMAN MOLECULAR GENETICS (2012)

Review Cell Biology

Neddylation dysfunction in Alzheimer's disease

Yuzhi Chen et al.

JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2012)

Article Biotechnology & Applied Microbiology

clusterProfiler: an R Package for Comparing Biological Themes Among Gene Clusters

Guangchuang Yu et al.

OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY (2012)

Article Biochemistry & Molecular Biology

Hypoxia-inducible Factor α Subunit Stabilization by NEDD8 Conjugation Is Reactive Oxygen Species-dependent

Ji-Hye Ryu et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2011)

Article Biochemical Research Methods

A public genome-scale lentiviral expression library of human ORFs

Xiaoping Yang et al.

NATURE METHODS (2011)

Article Biochemical Research Methods

CisGenome Browser: a flexible tool for genomic data visualization

Hui Jiang et al.

BIOINFORMATICS (2010)

Article Cell Biology

Roles of the NF-κB Pathway in Lymphocyte Development and Function

Steve Gerondakis et al.

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2010)

Article Biochemical Research Methods

Fast and accurate short read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2009)

Article Cell Biology

Single-vector inducible lentiviral RNAi system for oncology target validation

Dmitri Wiederschain et al.

CELL CYCLE (2009)

Article Medicine, Research & Experimental

Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation

Hui Xiong et al.

JOURNAL OF CLINICAL INVESTIGATION (2009)

Article Biochemistry & Molecular Biology

CUL4A Abrogation Augments DNA Damage Response and Protection against Skin Carcinogenesis

Liren Liu et al.

MOLECULAR CELL (2009)

Review Cell Biology

Ubiquitin-like protein activation by E1 enzymes: the apex for downstream signalling pathways

Brenda A. Schulman et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2009)

Article Multidisciplinary Sciences

PTEN-deficient cancers depend on PIK3CB

Susan Wee et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)

Article Biology

Cullin4B/E3-ubiquitin ligase negatively regulates β-catenin

Rachana Tripathi et al.

JOURNAL OF BIOSCIENCES (2007)

Article Medical Laboratory Technology

Linking laboratory and medication data: new opportunities for pharmacoepidemiological research

Maarten J. ten Berg et al.

CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2007)

Article Multidisciplinary Sciences

Wnt signaling in the thymus is regulated by differential expression of intracellular signaling molecules

F Weerkamp et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)

Article Multidisciplinary Sciences

Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles

A Subramanian et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)

Article Cell Biology

Neddylation and deneddylation regulate Cul1 and Cul3 protein accumulation

JT Wu et al.

NATURE CELL BIOLOGY (2005)

Article Biochemistry & Molecular Biology

UV-induced ubiquitylation of XPC protein mediated by UV-DDB-ubiquitin ligase complex

K Sugasawa et al.

Article Biochemistry & Molecular Biology

Conservation in the mechanism of nedd8 activation by the human AppBp1-Uba3 heterodimer

RN Bohnsack et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2003)

Article Biochemistry & Molecular Biology

NEDP1, a highly conserved cysteine protease that deNEDDylates Cullins

HM Mendoza et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2003)

Article Oncology

NEDD8 protein is involved in ubiquitinated inclusion bodies

AD Kuazi et al.

JOURNAL OF PATHOLOGY (2003)

Article Biochemistry & Molecular Biology

Nedd8 modification of Cul-1 activates SCFβTrCp-dependent ubiquitination of IκBα

MA Read et al.

MOLECULAR AND CELLULAR BIOLOGY (2000)