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Mitochondrial dysfunction, metabolic quiescence and premature senescence in CMT4B3 fibroblasts.

Human molecular genetics - 10 Aug 2026

Zanfardino Paola, Amati Alessandro, Cox Sharon, Agrimi Gennaro, Doccini Stefano, Fernández-Silva Patricio, Tullo Apollonia, Rosati Jessica, Santorelli Filippo M, Petruzzella Vittoria

Abstract excerpt

Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is an ultra-rare autosomal recessive neuropathy caused by mutations in the MTMR5/SBF1 gene. In this study, we characterized dermal fibroblasts derived from a patient carrying compound-heterozygous MTMR5/SBF1 variants (R763H/G1064E) and identified alterations affecting mitochondrial metabolism and cellular stress pathways. Patient fibroblasts exhibited fragmented...

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PMID: 42627996
DOI: 10.1093/hmg/ddag080

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SBF1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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