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PubMed:17923481 JSONTXT

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Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 479-483 http://purl.obolibrary.org/obo/MAT_0000284 denotes skin

DisGeNET

Id Subject Object Predicate Lexical cue
T0 366-370 gene:5162 denotes PDHB
T1 311-325 disease:C0034345 denotes PDH deficiency
R1 T0 T1 associated_with PDHB,PDH deficiency

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
17923481-2#82#86#gene5162 366-370 gene5162 denotes PDHB
17923481-2#27#41#diseaseC0034345 311-325 diseaseC0034345 denotes PDH deficiency
82#86#gene516227#41#diseaseC0034345 17923481-2#82#86#gene5162 17923481-2#27#41#diseaseC0034345 associated_with PDHB,PDH deficiency

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 0-41 ORDO:765 denotes Pyruvate dehydrogenase complex deficiency
AB1 183-186 ORDO:765 denotes PDH
AB2 311-314 ORDO:765 denotes PDH
AB3 346-349 ORDO:765 denotes PDH
AB4 454-457 ORDO:765 denotes PDH
AB5 528-531 ORDO:765 denotes PDH
AB6 712-715 ORDO:765 denotes PDH
AB7 1710-1713 ORDO:765 denotes PDH
AB8 2015-2018 ORDO:765 denotes PDH

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-121 Sentence denotes Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1 subunit.
TextSentencer_T2 122-283 Sentence denotes Congenital deficiencies of the human pyruvate dehydrogenase (PDH) complex are considered to be due to loss of function mutations in one of the component enzymes.
TextSentencer_T3 284-377 Sentence denotes Here we describe a case of PDH deficiency associated with the PDH E1beta subunit (PDHB) gene.
TextSentencer_T4 378-469 Sentence denotes The clinical phenotype of the patient was consistent with reported cases of PDH deficiency.
TextSentencer_T5 470-630 Sentence denotes Cultured skin fibroblasts demonstrated a 55% reduction in PDH activity and markedly decreased immunoreactivity for PDHB protein, compared with healthy controls.
TextSentencer_T6 631-782 Sentence denotes Surprisingly, nucleotide sequence analyses of cDNAs corresponding to the patient PDH E1alpha (PDHA1) and PDHB genes revealed no pathological mutations.
TextSentencer_T7 783-912 Sentence denotes Moreover, the relative expression level of PDHB mRNA and the rates of transcription and translation of the PDHB gene were normal.
TextSentencer_T8 913-1114 Sentence denotes However, PDC activity could be restored in cells from this patient following treatment with MG132, a specific proteasome inhibitor, and normal levels of E1beta could be detected in MG132-treated cells.
TextSentencer_T9 1115-1408 Sentence denotes Similar results were obtained following treatment with Tyr-phostin 23 (Tyr23), a specific inhibitor of epidermal growth factor receptor-protein-tyrosine kinase (EGFR-PTK), which also restored E1beta protein levels to those in cells from healthy subjects or from patients with PDHA1 deficiency.
TextSentencer_T10 1409-1684 Sentence denotes The index patient's cells contained a high basal level of EGFR-PTK activity that correlated with the high level of ubiquitination of cellular proteins, although the total EGFR protein levels were similar to those in cells from Elalpha-deficient subjects and healthy subjects.
TextSentencer_T11 1685-1934 Sentence denotes These data indicate that PDH deficiency in our patient involves a post-translational modification in which EGFR-PTK-mediated tyrosine phosphorylation of the E1beta protein leads to enhanced ubiquitination followed by proteasome-mediated degradation.
TextSentencer_T12 1935-2073 Sentence denotes They also provide a novel mechanism accounting for congenital deficiency of the PDH complex and perhaps other inborn errors of metabolism.
T1 0-121 Sentence denotes Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1 subunit.
T2 122-283 Sentence denotes Congenital deficiencies of the human pyruvate dehydrogenase (PDH) complex are considered to be due to loss of function mutations in one of the component enzymes.
T3 284-377 Sentence denotes Here we describe a case of PDH deficiency associated with the PDH E1beta subunit (PDHB) gene.
T4 378-469 Sentence denotes The clinical phenotype of the patient was consistent with reported cases of PDH deficiency.
T5 470-630 Sentence denotes Cultured skin fibroblasts demonstrated a 55% reduction in PDH activity and markedly decreased immunoreactivity for PDHB protein, compared with healthy controls.
T6 631-782 Sentence denotes Surprisingly, nucleotide sequence analyses of cDNAs corresponding to the patient PDH E1alpha (PDHA1) and PDHB genes revealed no pathological mutations.
T7 783-912 Sentence denotes Moreover, the relative expression level of PDHB mRNA and the rates of transcription and translation of the PDHB gene were normal.
T8 913-1114 Sentence denotes However, PDC activity could be restored in cells from this patient following treatment with MG132, a specific proteasome inhibitor, and normal levels of E1beta could be detected in MG132-treated cells.
T9 1115-1408 Sentence denotes Similar results were obtained following treatment with Tyr-phostin 23 (Tyr23), a specific inhibitor of epidermal growth factor receptor-protein-tyrosine kinase (EGFR-PTK), which also restored E1beta protein levels to those in cells from healthy subjects or from patients with PDHA1 deficiency.
T10 1409-1684 Sentence denotes The index patient's cells contained a high basal level of EGFR-PTK activity that correlated with the high level of ubiquitination of cellular proteins, although the total EGFR protein levels were similar to those in cells from Elalpha-deficient subjects and healthy subjects.
T11 1685-1934 Sentence denotes These data indicate that PDH deficiency in our patient involves a post-translational modification in which EGFR-PTK-mediated tyrosine phosphorylation of the E1beta protein leads to enhanced ubiquitination followed by proteasome-mediated degradation.
T12 1935-2073 Sentence denotes They also provide a novel mechanism accounting for congenital deficiency of the PDH complex and perhaps other inborn errors of metabolism.

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 0-41 Phenotype denotes Pyruvate dehydrogenase complex deficiency HP:0002928

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 0-41 Disease denotes Pyruvate dehydrogenase complex deficiency http://purl.obolibrary.org/obo/MONDO_0019169
T2 183-186 Disease denotes PDH http://purl.obolibrary.org/obo/MONDO_0019169
T3 311-325 Disease denotes PDH deficiency http://purl.obolibrary.org/obo/MONDO_0010717
T4 346-349 Disease denotes PDH http://purl.obolibrary.org/obo/MONDO_0019169
T5 454-468 Disease denotes PDH deficiency http://purl.obolibrary.org/obo/MONDO_0010717
T6 528-531 Disease denotes PDH http://purl.obolibrary.org/obo/MONDO_0019169
T7 712-715 Disease denotes PDH http://purl.obolibrary.org/obo/MONDO_0019169
T8 1710-1724 Disease denotes PDH deficiency http://purl.obolibrary.org/obo/MONDO_0010717
T9 2015-2018 Disease denotes PDH http://purl.obolibrary.org/obo/MONDO_0019169
T10 2045-2072 Disease denotes inborn errors of metabolism http://purl.obolibrary.org/obo/MONDO_0019052

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 153-158 OrganismTaxon denotes human 9606
T2 408-415 OrganismTaxon denotes patient 9606
T3 704-711 OrganismTaxon denotes patient 9606
T4 972-979 OrganismTaxon denotes patient 9606
T5 1732-1739 OrganismTaxon denotes patient 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 479-495 Body_part denotes skin fibroblasts http://purl.obolibrary.org/obo/CL_0002620
T2 1218-1234 Body_part denotes epidermal growth http://purl.obolibrary.org/obo/UBERON_0000021

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 479-483 Body_part denotes skin http://purl.obolibrary.org/obo/MAT_0000284

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 479-495 Cell denotes skin fibroblasts http://purl.obolibrary.org/obo/CL:0002620
T2 922-925 Cell denotes PDC http://purl.obolibrary.org/obo/CL:0000784
T3 1452-1457 Cell denotes basal http://purl.obolibrary.org/obo/CL:0002324