Associated Papers
Selective mitophagy activation and protein aggregate accumulation in MTMR5/SBF1-deficient fibroblasts.
Zanfardino P et al.
Life Sciences, 2025
Characterization of a novel zebrafish model of MTMR5-associated Charcot-Marie-Tooth disease type 4B3.
Lindzon J et al.
Brain Communications, 2025
40066109 (PubMed )
Supplement: fcaf077_supplementary_data.zip › Supplementary_Table1_patientmutations.xlsx › ClinVar_SBF1_mutations
Generation and characterization of CSSi016-A (9938) human pluripotent stem cell line carrying two biallelic variants in MTMR5/SBF1 gene resulting in a case of severe CMT4B3.
Maria Turco E et al.
Stem Cell Research, 2022
Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction.
Berti B et al.
Bmc Medical Genomics, 2021
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