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Article

Branched-Chain Amino Acid Assembly into Amyloid-like Fibrils Provides a New Paradigm for Maple Syrup Urine Disease Pathology.

International journal of molecular sciences - 6 Nov 2023

Kreiser Topaz, Sogolovsky-Bard Ilana, Zaguri Dor, Shaham-Niv Shira, Laor Bar-Yosef Dana, Gazit Ehud

Abstract excerpt

Inborn error of metabolism disorders (IEMs) are a family of diseases resulting from single-gene mutations that lead to the accumulation of metabolites that are usually toxic or interfere with normal cell function. The etiological link between metabolic alteration and the symptoms of IEMs is still elusive. Several metabolites, which accumulate in IEMs, were shown to self-assemble to form ordered structures. These...

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Identifiers

PMID: 37958982
DOI: 10.3390/ijms242115999
PMCID: PMC10650742

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