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Rezaul Karim et al.
PLOS PATHOGENS (2013)
Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome
Lina Basel-Vanagaite et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Mutations in proteasome subunit ß type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity
Yin Liu et al.
ARTHRITIS AND RHEUMATISM (2012)
The proteasome: molecular machinery and pathophysiological roles
Keiji Tanaka et al.
BIOLOGICAL CHEMISTRY (2012)
Emerging roles of immunoproteasomes beyond MHC class I antigen processing
Frederic Ebstein et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2012)
HECT and RING finger families of E3 ubiquitin ligases at a glance
Meredith B. Metzger et al.
JOURNAL OF CELL SCIENCE (2012)
Identification of F-box only protein 7 as a negative regulator of NF-kappaB signalling
Hendrik J. Kuiken et al.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2012)
BTB-ZF factors recruit the E3 ligase cullin 3 to regulate lymphoid effector programs
Rebecca Mathew et al.
NATURE (2012)
Narrowing the Critical Deletion Region for Autism Spectrum Disorders on 16p11.2
An Crepel et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2011)
Meta-Analysis of Cytokine Alterations in Schizophrenia: Clinical Status and Antipsychotic Effects
Brian J. Miller et al.
BIOLOGICAL PSYCHIATRY (2011)
A mutation in the RNF170 gene causes autosomal dominant sensory ataxia
Paul N. Valdmanis et al.
BRAIN (2011)
The Beclin 1 network regulates autophagy and apoptosis
R. Kang et al.
CELL DEATH AND DIFFERENTIATION (2011)
E3 ubiquitin ligase CHIP facilitates Toll-like receptor signaling by recruiting and polyubiquitinating Src and atypical PKCζ
Mingjin Yang et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2011)
Evidence for OTUD-6B Participation in B Lymphocytes Cell Cycle after Cytokine Stimulation
Zhongping Xu et al.
PLOS ONE (2011)
Human leucine-rich repeat proteins: a genome-wide bioinformatic categorization and functional analysis in innate immunity
Aylwin C. Y. Ng et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome
Kazuhiko Arima et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease
Naomi J. Lohr et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome
Anil K. Agarwal et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Non-canonical ubiquitylation of the proneural protein Ngn2 occurs in both Xenopus embryos and mammalian cells
Gary S. McDowell et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2010)
The Ubiquitin Ligase Riplet Is Essential for RIG-I-Dependent Innate Immune Responses to RNA Virus Infection
Hiroyuki Oshiumi et al.
CELL HOST & MICROBE (2010)
Elevated 1,25-dihydroxyvitamin D and normocalcaemia in presumed familial Williams syndrome
J. Knudtzon et al.
CLINICAL GENETICS (2010)
Contributions of peripheral inflammation to seizure susceptibility: Cytokines and brain excitability
Kiarash Riazi et al.
EPILEPSY RESEARCH (2010)
K33-Linked Polyubiquitination of T Cell Receptor-ζ Regulates Proteolysis-Independent T Cell Signaling
Haining Huang et al.
IMMUNITY (2010)
The genetic basis of non-syndromic intellectual disability: a review
Liana Kaufman et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2010)
The RNF8/RNF168 ubiquitin ligase cascade facilitates class switch recombination
Shaliny Ramachandran et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease
Duane L. Guernsey et al.
PLOS GENETICS (2010)
Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa
James S. Friedman et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
TRIM36 interacts with the kinetochore protein CENP-H and delays cell cycle progression
Naoto Miyajima et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2009)
HSV ICP0 recruits USP7 to modulate TLR-mediated innate response
Sandrine Daubeuf et al.
BLOOD (2009)
The RIDDLE Syndrome Protein Mediates a Ubiquitin-Dependent Signaling Cascade at Sites of DNA Damage
Grant S. Stewart et al.
CELL (2009)
Cullin Mediates Degradation of RhoA through Evolutionarily Conserved BTB Adaptors to Control Actin Cytoskeleton Structure and Cell Movement
Yuezhou Chen et al.
MOLECULAR CELL (2009)
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage
Tiziana Nardo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
The E3 Ubiquitin Ligase Triad3A Negatively Regulates the RIG-I/MAVS Signaling Pathway by Targeting TRAF3 for Degradation
Peyman Nakhaei et al.
PLOS PATHOGENS (2009)
Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 KSNP arrays
Seyedmehdi Shojaee et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
Guy Froyen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Inflammatory cytokine alterations in schizophrenia: A systematic quantitative review
Stephane Potvin et al.
BIOLOGICAL PSYCHIATRY (2008)
Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase
Lucia Micale et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Proteasome subunit Rpn13 is a novel ubiquitin receptor
Koraljka Husnjak et al.
NATURE (2008)
Apoptosis induction by Bid requires unconventional ubiquitination and degradation of its N-terminal fragment
Stephen W. G. Tait et al.
JOURNAL OF CELL BIOLOGY (2007)
Negative regulation of the RIG-I signaling by the ubiquitin ligase RNF125
Kei-ichiro Arimoto et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor
Patrick S. Tarpey et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
A mutation in the F-box gene, Fbxo11, causes otitis media in the Jeff mouse
Rachel E. Hardisty-Hughes et al.
HUMAN MOLECULAR GENETICS (2006)
UBP43 is a novel regulator of interferon signaling independent of its ISG15 isopeptidase activity
Oxana A. Malakhova et al.
EMBO JOURNAL (2006)
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)
M Zenker et al.
NATURE GENETICS (2005)
Identification of mutations in CUL7 in 3-M syndrome
C Huber et al.
NATURE GENETICS (2005)
Function and regulation of Cullin-RING ubiquitin ligases
MD Petroski et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2005)
Role of ISG15 protease UBP43 (USP18) in innate immunity to viral infection
KJ Ritchie et al.
NATURE MEDICINE (2004)
Polyubiquitin chains: polymeric protein signals
CM Pickart et al.
CURRENT OPINION IN CHEMICAL BIOLOGY (2004)
Ubiquitin: structures, functions, mechanisms
CM Pickart et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2004)
Mutations in NHLRC1 cause progressive myoclonus epilepsy
EM Chan et al.
NATURE GENETICS (2003)
A novel splice site mutation in the TRIM37 gene causes Mulibrey Nanism iin a Turkish family with phenotypic heterogeneity
P Jagiello et al.
HUMAN MUTATION (2003)
Transcriptional activation via sequential histone H2B ubiquitylation and deubiquitylation, mediated by SAGA-associated Ubp8
KW Henry et al.
GENES & DEVELOPMENT (2003)
The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein:: Classification of mulibrey nanism as a new peroxisomal disorder
J Kallijärvi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Rapid degradation of a large fraction of newly synthesized proteins by proteasomes
U Schubert et al.
NATURE (2000)
Late-onset neurodegenerative diseases - the role of protein insolubility
WG Johnson
JOURNAL OF ANATOMY (2000)
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