Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability

scientific article published on 10 December 2018

Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1038/S41589-018-0177-2
P932PMC publication ID6626659
P698PubMed publication ID30531907

P50authorAna Cristina KrepischiQ43507430
Paulo OliveiraQ90259082
Juliana Ferreira de OliveiraQ90371305
Americo Tavares RanzaniQ90371308
P2093author name stringCarla Rosenberg
Paula Favoretti Vital do Prado
Kleber Gomes Franchini
Rachel E Klevit
Paulo A Otto
Mariana Maschietto
Silvia Souza da Costa
Mauricio Luis Sforça
Camila Canateli
P2860cites workThe mechanism of linkage-specific ubiquitin chain elongation by a single-subunit E2Q24294888
A ubiquitin ligase transfers preformed polyubiquitin chains from a conjugating enzyme to a substrateQ24297635
Novel variants in UBE2B gene and idiopathic male infertilityQ24315693
Fast and accurate short read alignment with Burrows-Wheeler transformQ24653853
UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndromeQ24678557
E2 enzymes: more than just middle menQ26752818
KCMF1 (potassium channel modulatory factor 1) Links RAD6 to UBR4 (ubiquitin N-recognin domain-containing E3 ligase 4) and lysosome-mediated degradationQ27311789
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E3 ligase Rad18 promotes monoubiquitination rather than ubiquitin chain formation by E2 enzyme Rad6Q27667304
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Structural Insights into the Conformation and Oligomerization of E2∼Ubiquitin ConjugatesQ27678872
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RAD6-dependent DNA repair is linked to modification of PCNA by ubiquitin and SUMO.Q27937465
The ubiquitin codeQ28265104
Essential Role for Ubiquitin-Ubiquitin-Conjugating Enzyme Interaction in Ubiquitin Discharge from Cdc34 to SubstrateQ28740322
A framework for variation discovery and genotyping using next-generation DNA sequencing dataQ29547262
Mms2-Ubc13 covalently bound to ubiquitin reveals the structural basis of linkage-specific polyubiquitin chain formationQ29619698
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entityQ33587466
Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genesQ33620872
Exploring the RING-catalyzed ubiquitin transfer mechanism by MD and QM/MM calculationsQ33864109
Rad6 is a Potential Early Marker of Melanoma DevelopmentQ34092180
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Expression of the ubiquitin-conjugating DNA repair enzymes HHR6A and B suggests a role in spermatogenesis and chromatin modification.Q34372707
Ubiquitin in motion: structural studies of the ubiquitin-conjugating enzyme∼ubiquitin conjugateQ34666396
The family of ubiquitin-conjugating enzymes (E2s): deciding between life and death of proteinsQ35014611
Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genesQ35095534
Role of a non-canonical surface of Rad6 in ubiquitin conjugating activity.Q36160654
Next-generation sequencing in X-linked intellectual disabilityQ36184604
Structure of an E3:E2~Ub complex reveals an allosteric mechanism shared among RING/U-box ligases.Q36291328
Rad6 upregulation promotes stem cell-like characteristics and platinum resistance in ovarian cancerQ36471294
Novel Inhibitors of Rad6 Ubiquitin Conjugating Enzyme: Design, Synthesis, Identification, and Functional CharacterizationQ37343840
Ubiquitination in disease pathogenesis and treatmentQ38265657
Perturbed proteostasis in autism spectrum disordersQ38882773
Ubiquitin-like Protein Conjugation: Structures, Chemistry, and MechanismQ39149390
Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagyQ39150269
Regulation of E2s: A Role for Additional Ubiquitin Binding Sites?Q39381301
The molecular basis of lysine 48 ubiquitin chain synthesis by Ube2K.Q40291384
Lysine activation and functional analysis of E2-mediated conjugation in the SUMO pathway.Q41792401
Structural basis for the RING-catalyzed synthesis of K63-linked ubiquitin chainsQ42095239
A novel UBE2A mutation causes X-linked intellectual disability type NascimentoQ42215618
Etiological yield of SNP microarrays in idiopathic intellectual disabilityQ44007072
Controlled synthesis of polyubiquitin chainsQ46843256
Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.Q51852497
Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation.Q51853695
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.Q52735734
Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities.Q52776190
UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.Q55053637
UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.Q55058584
Functional heterogeneity of ubiquitin carrier proteinsQ70077950
A quantitative study of the in vitro binding of the C-terminal domain of p21 to PCNA: affinity, stoichiometry, and thermodynamicsQ73905624
A UbcH5/ubiquitin noncovalent complex is required for processive BRCA1-directed ubiquitinationQ82857335
P433issue1
P921main subjectdisability affecting intellectual abilitiesQ3317827
intellectual disabilityQ183560
P304page(s)62-70
P577publication date2018-12-10
P1433published inNature Chemical BiologyQ904026
P1476titleMechanistic insights revealed by a UBE2A mutation linked to intellectual disability
P478volume15

Reverse relations

Q61848175E2 enzymes: lessons in ubiquitin transfer from XLID patientscites workP2860

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