Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)
about
BMS1 is mutated in aplasia cutis congenitaThe N-end rule pathwayDiscovery of cellular regulation by protein degradationDiversity of degradation signals in the ubiquitin-proteasome systemJohanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testingHereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanismSynthetic heterovalent inhibitors targeting recognition E3 components of the N-end rule pathwayN-Terminal Acetylation-Targeted N-End Rule Proteolytic System: The Ac/N-End Rule PathwayStructural basis for the recognition of N-end rule substrates by the UBR box of ubiquitin ligasesStructural basis of substrate recognition and specificity in the N-end rule pathwayCytoplasmic protein quality control degradation mediated by parallel actions of the E3 ubiquitin ligases Ubr1 and San1Amino acids induce peptide uptake via accelerated degradation of CUP9, the transcriptional repressor of the PTR2 peptide transporter.The ubiquitin ligase Ubr2, a recognition E3 component of the N-end rule pathway, stabilizes Tex19.1 during spermatogenesisFission yeast 26S proteasome mutants are multi-drug resistant due to stabilization of the Pap1 transcription factorProgressive Hearing Loss in Mice Carrying a Mutation in Usp53.Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani familyPancreatic exocrine insufficiency in LXRbeta-/- mice is associated with a reduction in aquaporin-1 expressionGlutamine-specific N-terminal amidase, a component of the N-end rule pathwayAltered social behavior and neuronal development in mice lacking the Uba6-Use1 ubiquitin transfer system.Biochemical and genetic studies of UBR3, a ubiquitin ligase with a function in olfactory and other sensory systemsReal-time detection of N-end rule-mediated ubiquitination via fluorescently labeled substrate probes.The substrate recognition domains of the N-end rule pathway.The UBR-box and its relationship to binuclear RING-like treble clef zinc fingersLack of association of genetic variation in chromosome region 15q14-22.1 with type 2 diabetes in a Japanese population.Johanson-Blizzard syndromeSent to destroy: the ubiquitin proteasome system regulates cell signaling and protein quality control in cardiovascular development and disease.E3 Ubiquitin Ligases Neurobiological Mechanisms: Development to DegenerationUbiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndromeGenome-wide approaches to systematically identify substrates of the ubiquitin-proteasome pathwayThe N-end rule pathway and regulation by proteolysisPancreatic function in carboxyl-ester lipase knockout miceIntellectual disability and autism spectrum disorders: causal genes and molecular mechanisms.Aminoacyl-transferases and the N-end rule pathway of prokaryotic/eukaryotic specificity in a human pathogenGenetics and treatment options for recurrent acute and chronic pancreatitis.Impaired neurogenesis and cardiovascular development in mice lacking the E3 ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway.Johanson-Blizzard syndrome: autopsy findings with special emphasis on hypopituitarism and review of the literature.Absence of diabetes and pancreatic exocrine dysfunction in a transgenic model of carboxyl-ester lipase-MODY (maturity-onset diabetes of the young).Expression and biochemical characterization of the human enzyme N-terminal asparagine amidohydrolase.Alternative ubiquitin activation/conjugation cascades interact with N-end rule ubiquitin ligases to control degradation of RGS proteins.UBR1 promotes protein kinase quality control and sensitizes cells to Hsp90 inhibition.
P2860
Q21092409-011D7451-E0DC-45E9-9881-709D8053DA6BQ24598290-B338E98E-95F3-4163-BD93-4D6BF4AA2A47Q24607508-EA495B78-8089-4F1A-8B4C-FCEE5D6064AAQ24642979-F86E8228-B08F-4A0B-A41E-0ECC16052B2CQ24644426-825E4030-41DC-4B10-821B-E57FDBCB7DA5Q24650338-75259ED2-3370-4F72-B34D-5D8D1134B2A5Q24657529-74DAB996-BF6F-4131-88DE-77C8C4A6AC82Q26765414-C0DA0B9C-DC73-404A-AE0B-A7CC44ED647CQ27664442-14D6486C-CA4A-414D-A51F-F907640080D9Q27664443-B5DD51C7-60AA-4FAE-AF23-0899CEBD6EBDQ27932129-0533D60F-6548-4B11-BB65-9FB84F63A2BEQ27938697-9EF43E64-FA36-463C-9173-013F25B9EDADQ28476173-F865BB1B-FDC2-42FC-844A-CE2DD638B96CQ28485335-D49C58C9-05F2-4BA6-85D1-5E76EED02B06Q28506642-E89B0B0E-4D64-476E-AE2A-36D7DD71244DQ28506716-60DB574E-60E3-4986-B75D-7B2BAE9F9D98Q28587690-8CD00243-0F71-4623-AD81-82BE38FA7DD3Q28591063-83CF9484-1861-4B53-B904-768923200825Q28591808-BCA3F707-B6F1-4881-95AC-A704C6170230Q28594626-492BBC32-512D-49E3-918D-DBA7109A934EQ30313354-51600110-C269-4A8A-8819-088E06FC1164Q30437353-D9B7EBCF-2693-449B-982B-4CBFD338EC90Q30658023-4D81DF2A-20C9-4D90-952A-27B8625D8BF6Q33325802-3D46285D-22E0-4CC9-BDD2-27F49ACAE0ADQ33398145-A9BEA0E1-EB89-4589-9B2A-67601F4B2EA3Q33679929-973CAD4A-C8D8-4D14-BD1B-92103C484C85Q33705444-0B3D7CB8-E78B-4296-A102-07DE6014BE02Q34024105-5A54F6E7-B0DA-4D4E-A9C9-4A8FC947E40DQ34079545-9A8FF0D5-75BF-4AE7-91D9-1B08C2345D7BQ34189152-01E8996E-BD59-49CC-AFB4-360BA086A540Q34262614-982183F5-0184-4293-B62A-F424699A7F08Q34289505-34F43A5D-CC8A-41C5-AE62-9061FB43CDD9Q34480266-D81635C9-2359-4064-948F-7166E2F9A7DEQ34581965-AF98D3D3-52FE-4AB9-BA5A-A19F883765CEQ34597362-06F109A6-432E-4BF1-A67C-452A5B43310CQ34611230-A4D0CD95-5CE6-4F26-999E-3D81C77E53D5Q34658198-3CDFB395-9151-466F-ABB2-84A815900EC0Q34896271-E01AFB11-D197-4DBC-96C3-A7BDF0FDC212Q35151521-1E29E8A5-0883-4C10-B734-8CCE241137B6Q35566815-04A87B91-A6B3-4855-86B8-A6D3B43DA919
P2860
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)
description
2005 nî lūn-bûn
@nan
2005 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Deficiency of UBR1, a ubiquiti ...... n (Johanson-Blizzard syndrome)
@ast
Deficiency of UBR1, a ubiquiti ...... n (Johanson-Blizzard syndrome)
@en
Deficiency of UBR1, a ubiquiti ...... n (Johanson-Blizzard syndrome)
@nl
type
label
Deficiency of UBR1, a ubiquiti ...... n (Johanson-Blizzard syndrome)
@ast
Deficiency of UBR1, a ubiquiti ...... n (Johanson-Blizzard syndrome)
@en
Deficiency of UBR1, a ubiquiti ...... n (Johanson-Blizzard syndrome)
@nl
prefLabel
Deficiency of UBR1, a ubiquiti ...... n (Johanson-Blizzard syndrome)
@ast
Deficiency of UBR1, a ubiquiti ...... n (Johanson-Blizzard syndrome)
@en
Deficiency of UBR1, a ubiquiti ...... n (Johanson-Blizzard syndrome)
@nl
P2093
P2860
P50
P356
P1433
P1476
Deficiency of UBR1, a ubiquiti ...... n (Johanson-Blizzard syndrome)
@en
P2093
Alexander Varshavsky
Andreas Tagariello
Andreas Winterpacht
Celina Guzman
Frits A Beemer
Georg Hülskamp
Helga Rehder
Marta W Vieira
Matthias Beier
P2860
P2888
P304
P356
10.1038/NG1681
P407
P50
P577
2005-12-01T00:00:00Z