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Article

Respiratory deficiency in yeast mevalonate kinase deficient may explain MKD-associate metabolic disorder in humans.

Current genetics - 1 Aug 2018

Santos Manuella Maria Silva, Elsztein Carolina, De Souza Rafael Barros, Paiva Sérgio de Sá Leitão, Silva Jaqueline Azevêdo, Crovella Sergio, De Morais Marcos Antonio

Abstract excerpt

Mevalonate kinase deficiency (MKD) an orphan drug rare disease affecting humans with different clinical presentations, is still lacking information about its pathogenesis; no animal or cell model mimicking the genetic defect, mutations at MVK gene, and its consequences on the mevalonate pathway is available. Trying to clarify the effects of MVK gene impairment on the mevalonate pathway we used a yeast model, the...

Topics

Gene Expression Regulation, Fungal
Genome, Fungal
Humans
Mevalonate Kinase Deficiency
Mutation
Phosphotransferases (Alcohol Group Acceptor)
Respiration
Saccharomyces cerevisiae
Saccharomyces cerevisiae Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Terpenes

Transcription Factors

Ubiquinone

Source

Identifiers

PMID: 29374778
DOI: 10.1007/s00294-018-0803-2

Genes

MVK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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