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Article

Unfolding a folding disease: folding, misfolding and aggregation of the marble brain syndrome-associated mutant H107Y of human carbonic anhydrase II.

Journal of molecular biology - 10 Sept 2004

Almstedt Karin, Lundqvist Martin, Carlsson Jonas, Karlsson Martin, Persson Bengt, Jonsson Bengt-Harald, Carlsson Uno, Hammarström Per

Abstract excerpt

Most loss-of-function diseases are caused by aberrant folding of important proteins. These proteins often misfold due to mutations. The disease marble brain syndrome (MBS), known also as carbonic anhydrase II deficiency syndrome (CADS), can manifest in carriers of point mutations in the human carbonic anhydrase II (HCA II) gene. One mutation associated with MBS entails the His107Tyr substitution. Here, we...

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PMID: 15327960
DOI: 10.1016/j.jmb.2004.07.024

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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