INF2Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy | Zendy

Olivia Boyer | Zendy; Fabien Névo | Zendy; Emmanuelle Plaisier | Zendy; Benoît Funalot | Zendy; Olivier Gribouval | Zendy; Geneviève Benoît | Zendy; Evelyne Huynh Cong | Zendy; Christelle Arrondel | Zendy; Marie-Josèphe Tête | Zendy; Rodrick Montjean | Zendy; Laurence Richard | Zendy; Alexandre Karras | Zendy; Claire PouteilNoble | Zendy; Leila Balafrej | Zendy; Alain Bonnardeaux | Zendy; Guillaume Canaud | Zendy; Christophe Charasse | Zendy; Jacques Dantal | Zendy; Georges Deschênes | Zendy; P. Deteix | Zendy; O. Dubourg | Zendy; Philippe Petiot | Zendy; Dominique Pouthier | Zendy; Eric LeGuern | Zendy; Anne GuiochonMantel | Zendy; Isabelle Broutin | Zendy; MarieClaire Gubler | Zendy; Sophie Saunier | Zendy; Pierre Ronco | Zendy; JeanMichel Vallat | Zendy; Miguel A. Alonso | Zendy; Corinne Antignac | Zendy; Géraldine Mollet | Zendy

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INF2Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy

Author(s) -

Olivia Boyer,

Fabien Névo,

Emmanuelle Plaisier,

Benoît Funalot,

Olivier Gribouval,

Geneviève Benoît,

Evelyne Huynh Cong,

Christelle Arrondel,

Marie-Josèphe Tête,

Rodrick Montjean,

Laurence Richard,

Alexandre Karras,

Claire PouteilNoble,

Leila Balafrej,

Alain Bonnardeaux,

Guillaume Canaud,

Christophe Charasse,

Jacques Dantal,

Georges Deschênes,

P. Deteix,

O. Dubourg,

Philippe Petiot,

Dominique Pouthier,

Eric LeGuern,

Anne GuiochonMantel,

Isabelle Broutin,

MarieClaire Gubler,

Sophie Saunier,

Pierre Ronco,

JeanMichel Vallat,

Miguel A. Alonso,

Corinne Antignac,

Géraldine Mollet

Publication year - 2011

Publication title -

new england journal of medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 19.889

H-Index - 1030

eISSN - 1533-4406

pISSN - 0028-4793

DOI - 10.1056/nejmoa1109122

Subject(s) - focal segmental glomerulosclerosis , medicine , nephrotic syndrome , glomerulopathy , glomerulosclerosis , myelin , pathology , genetics , proteinuria , biology , endocrinology , kidney , central nervous system

Charcot-Marie-Tooth neuropathy has been reported to be associated with renal diseases, mostly focal segmental glomerulosclerosis (FSGS). However, the common mechanisms underlying the neuropathy and FSGS remain unknown. Mutations in INF2 were recently identified in patients with autosomal dominant FSGS. INF2 encodes a formin protein that interacts with the Rho-GTPase CDC42 and myelin and lymphocyte protein (MAL) that are implicated in essential steps of myelination and myelin maintenance. We therefore hypothesized that INF2 may be responsible for cases of Charcot-Marie-Tooth neuropathy associated with FSGS.

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