Literature DB >> 7757088

Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit.

S G Hemalatha1, D S Kerr, I D Wexler, M M Lusk, M Kaung, Y Du, M Kolli, R L Schelper, M S Patel.   

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Year:  1995        PMID： 7757088     DOI： 10.1093/hmg/4.2.315

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  5 in total

Review 1.  The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Authors:  Kavi P Patel; Thomas W O'Brien; Sankarasubramon H Subramony; Jonathan Shuster; Peter W Stacpoole
Journal:  Mol Genet Metab       Date:  2011-10-07       Impact factor: 4.797

2.  The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Authors:  Kavi P Patel; Thomas W O'Brien; Sankarasubramon H Subramony; Jonathan Shuster; Peter W Stacpoole
Journal:  Mol Genet Metab       Date:  2012-07       Impact factor: 4.797

3.  Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.

Authors:  Sanne van Dongen; Ruth M Brown; Garry K Brown; David R Thorburn; Avihu Boneh
Journal:  JIMD Rep       Date:  2014-04-10

4.  Simulations of Pathogenic E1α Variants: Allostery and Impact on Pyruvate Dehydrogenase Complex-E1 Structure and Function.

Authors:  Hatice Gokcan; Jirair K Bedoyan; Olexandr Isayev
Journal:  J Chem Inf Model       Date:  2022-07-07       Impact factor: 6.162

5.  Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC-E1 structure and function.

Authors:  Nicole H Ducich; Jason A Mears; Jirair K Bedoyan
Journal:  J Inherit Metab Dis       Date:  2022-02-01       Impact factor: 4.750
  5 in total

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