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Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.

Mettl3 is essential for normal tissue development and self-renewal by regulating gene expression.

Methionine restriction works better than betaine for treating CBS deficiency symptoms in mice.

The LMNA mutation affects skin structure even in asymptomatic carriers.

Not having enough cystatin M/E protein causes less hair growth and dry skin.

Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.

Increasing m6A levels can improve skin cell growth and wound healing.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.

MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.

MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.

MT-DADMe-ImmA can selectively kill head and neck cancer cells without harming normal cells.

Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.

Malt1 protease is essential for regulatory T cell function and could be targeted to boost antitumor immunity.

Methionine is essential for hair maintenance in C57BL/6 mice.

Lack of cystatin M/E causes thin hair and dry skin.

MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.

A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.

Mutants of CYP154C2 enzyme significantly improved steroid conversion efficiency.

Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

A gene variant causes a skin and hair disorder by disrupting protein balance.

Cystatin M/E strongly inhibits cathepsin V and cathepsin L, important for skin formation.

Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.

Skin acetyl-CoA synthesis is crucial for overall lipid balance.

ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.