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Browsing by Author "Lupo, V"

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Browsing by Author "Lupo, V"

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    Mutations in the urocanase gene UROC1 are associated with urocanic aciduria 
    Espinós-Armero, Carmen Ángeles; Pineda, M.; Martínez-Rubio, D.; Aída Ormazabal; María Antonia Vilaseca; Leo J. M. Spaapen; Palau, Francesc; Rafael Artuch; Lupo,V (BMJ, 2009-06)
    [EN] Urocanase is an enzyme in the histidine pathway encoded by the UROC1 gene. This report describes the first putative mutations, p. L70P and p.R450C, in the coding region of the UROC1 gene in a girl with urocanic aciduria ...
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    Sh3tc2 deficiency affects neuregulin-1/ErbB signaling 
    Estelle Arnaud Gouttenoire; Lupo,V; Calpena-Corpas, Eduardo; Luca Bartesaghi; Fanny Schüpfer; Jean-Jacques Médard; Fabienne Maurer; Jacques S Beckmann; Jan Senderek; Palau, Francesc; Espinós-Armero, Carmen Ángeles; Roman Chrast (John Wiley & Sons, 2013-07)
    [EN] Mutations in SH3TC2 trigger autosomal recessive demyelinating Charcot-Marie-Tooth type 4C (CMT4C) neuropathy. Sh3tc2 is specifically expressed in Schwann cells and is necessary for proper myelination of peripheral ...
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    The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease 
    Sevilla, T.; Sivera, R.; Martínez-Rubio, D.; Lupo, V.; Chumillas, M.J.; Calpena-Corpas, E.; Dopazo, J.; Vílchez, J.J.; Palau, F.; Espinós-Armero, Carmen Ángeles (Blackwell Publishing, 2015-12)
    [EN] Background and purpose: A three-generation family affected by axonal Charcot-Marie-Tooth disease (CMT) was investigated with the aim of discovering genetic defects and to further characterize the phenotype. Methods: ...