Associated Papers
Co-occurrence of Charcot-Marie-Tooth disease type 1 and glomerulosclerosis in a patient with a de novo INF2 variant.
Ding Y et al.
Bmc Nephrology, 2024
Regulation of formin INF2 and its alteration in INF2-linked inherited disorders.
Labat-de-Hoz L et al.
Cellular and Molecular Life Sciences : Cmls, 2024
39586895 (PubMed )
Supplement: 18_2024_5499_MOESM3_ESM.xlsx › Table-S1
INF2 mutations in patients with a broad phenotypic spectrum of Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
Park JH et al.
Journal of the Peripheral Nervous System : Jpns, 2023
The formin INF2 in disease: progress from 10 years of research.
Labat-de-Hoz L et al.
Cellular and Molecular Life Sciences : Cmls, 2020
A Deregulated Stress Response Underlies Distinct INF2-Associated Disease Profiles.
Bayraktar S et al.
Journal of the American Society of Nephrology : Jasn, 2020
A complex containing lysine-acetylated actin inhibits the formin INF2.
A M et al.
Nature Cell Biology, 2019
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
Werheid F et al.
Brain and Behavior, 2016
Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.
Roos A et al.
Journal of the Peripheral Nervous System : Jpns, 2015
Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.
Caridi G et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2014
De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy.
Mademan I et al.
Neurology, 2013
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