[HTML][HTML] Compromised protein prenylation as pathogenic mechanism in mevalonate kinase deficiency

FA Politiek, HR Waterham - Frontiers in immunology, 2021 - frontiersin.org
Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder
characterized by life-long recurring episodes of fever and inflammation, often without clear …

[HTML][HTML] A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects

H Choquet, RB Melles, D Anand, J Yin… - Nature …, 2021 - nature.com
Cataract is the leading cause of blindness among the elderly worldwide and cataract
surgery is one of the most common operations performed in the United States. As the …

Neurological manifestations in mevalonate kinase deficiency: A systematic review

I Elhani, V Hentgen, G Grateau… - Molecular Genetics and …, 2022 - Elsevier
Introduction Mevalonate kinase deficiency (MKD) is a monogenic auto-inflammatory
disease. Its manifestations range from partial MKD to mevalonic aciduria (MVA). All patients …

[HTML][HTML] Mevalonate kinase-associated diseases: hunting for phenotype–genotype correlation

G Boursier, C Rittore, F Milhavet, L Cuisset… - Journal of Clinical …, 2021 - mdpi.com
Mevalonate kinase-associated diseases (MKAD) are caused by pathogenic mutations in the
mevalonate kinase gene (MVK) and encompass several phenotypically different rare and …

[HTML][HTML] Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review

I Touitou - Genes & Diseases, 2022 - Elsevier
Mevalonate kinase (MK)-associated diseases encompass a broad spectrum of rare auto-
inflammatory conditions, all resulting from pathogenic variants in the mevalonate kinase …

[HTML][HTML] A proposed diagnostic algorithm for inborn errors of metabolism presenting with movements disorders

JD Ortigoza-Escobar - Frontiers in Neurology, 2020 - frontiersin.org
Inherited metabolic diseases or inborn errors of metabolism frequently manifest with both
hyperkinetic (dystonia, chorea, myoclonus, ataxia, tremor, etc.) and hypokinetic (rigid …

[HTML][HTML] Hints for genetic and clinical differentiation of adult-onset monogenic autoinflammatory diseases

C Gaggiano, D Rigante, A Vitale… - Mediators of …, 2019 - hindawi.com
Monogenic autoinflammatory diseases (mAIDs) are inherited errors of innate immunity
characterized by systemic inflammation recurring with variable frequency and involving the …

[HTML][HTML] Changes in DNA methylation hallmark alterations in chromatin accessibility and gene expression for eye lens differentiation

J Disatham, L Brennan, X Jiao, Z Ma… - Epigenetics & …, 2022 - Springer
Background Methylation at cytosines (mCG) is a well-known regulator of gene expression,
but its requirements for cellular differentiation have yet to be fully elucidated. A well-studied …

Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa

A Dvaladze, E Tavares, M Di Scipio, G Nimmo… - Clinical …, 2022 - Wiley Online Library
Non‐syndromic retinitis pigmentosa (NSRP) is a clinically and genetically heterogeneous
group of disorders characterized by progressive degeneration of the rod and cone …

The eye involvement in monogenic autoinflammatory diseases: literature review and update

J Sota, A Vitale, C Fabiani, B Frediani… - Clinical and …, 2018 - usiena-air.unisi.it
Monogenic autoinflammatory diseases (AIDs) are rare entities characterised by improper
activation of the innate immune system. This in turn determines recurrent episodes of …