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Browsing by Author "Lupo, Vincenzo"

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Browsing by Author "Lupo, Vincenzo"

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    A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency 
    Fernández-Burriel, Miguel; Martínez-Rubio, Dolores; Lupo,Vincenzo; Pérez-Colosía, Víctor; Piñán López, Esther; Palau, Francesc; Espinós-Armero, Carmen Ángeles (Nature Publishing Group, 2008-09)
    [EN] Ataxia with isolated vitamin E deficiency is a rare autosomal recessive neurodegenerative disease due to mutations in the a-tocopherol transfer protein gene. In ataxia with isolated vitamin E deficiency, the biochemical ...
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    Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy 
    Lupo, Vincenzo; García-García, Francisco; Sancho, Paula; Tello, Cristina; García-Romero, Mar; Villarreal, Liliana; Alberti, Antonia; Sivera, Rafael; Pascual-Pascual, Samuel I.; Márquez-Infante, Celedonio; Casasnovas, Carlos; Sevilla, Teresa; Espinós-Armero, Carmen Ángeles (Elsevier, 2016-03)
    [EN] Charcot-Marie-Tooth disease is characterized by broad genetic heterogeneity with >50 known disease-associated genes. Mutations in some of these genes can cause a pure motor form of hereditary motor neuropathy, the ...
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    Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations 
    Sancho, Paula; Bartesaghi, Luca; Miossec, Olivia; García-García, Francisco; Ramírez-Jiménez, Laura; Siddell, Anna; Ajkesson, Elisabet; Hedlund, Eva; Lassuthova, Petra; Pascual-Pascual, Samuel I.; Sevilla, Teresa; Kennerson, Marina; Lupo, Vincenzo; Chrast, Roman; Espinós-Armero, Carmen Ángeles (Oxford University Press, 2019-05-15)
    [EN] Mutations in MORC2 lead to an axonal form of Charcot-Marie-Tooth (CMT) neuropathy type 2Z. To date, 31 families have been described with mutations in MORC2, indicating that this gene is frequently involved in axonal ...
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    Characterizing the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations 
    Lupo,Vincenzo; Frasquet, Marina; Sánchez-Monteagudo, Ana; Pelayo-Negro, Ana; García-Sobrino, Tania; Sedano, María José; Pardo, Julio; Misiego, Mercedes; García-García, Jorge; Sobrido, María Jesús; Martínez-Rubio, Dolores; Chumillas, María José; Vilchez, Juan J.; Vázquez-Costa, Juan Francisco; Espinós-Armero, Carmen Ángeles; Sevilla, Teresa (BMJ, 2018-12)
    [EN] Background Mutations in the metalloendopeptidase (MME) gene were initially identified as a cause of autosomal recessive Charcot-Marie-Tooth disease type 2 (CMT2). Subsequently, variants in MME were linked to other ...
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    Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain 
    Sánchez-Monteagudo, Ana; Álvarez-Sauco, María; Sastre, Isabel; Martínez-Torres, Irene; Lupo,Vincenzo; Berenguer, Marina; Espinós-Armero, Carmen Ángeles (Blackwell Publishing, 2020-05)
    [EN] Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B mutations. Subjects with only one mutation may show clinical signs and individuals with biallelic changes may remain asymptomatic. We aimed to ...
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    Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease 
    Pla-Martín, David; Calpena-Corpas, Eduardo; Lupo, Vincenzo; Márquez, Celedonio; Rivas, Eloy; Sivera, Rafael; Sevilla, Teresa; Palau, Francesc; Espinós-Armero, Carmen Ángeles (Oxford University Press, 2015-01-01)
    [EN] Mutations in the GDAP1 gene cause different forms of Charcot-Marie-Tooth (CMT) disease, and the primary clinical expression of this disease is markedly variable in the dominant inheritance form (CMT type 2K; CMT2K), ...
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    Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway 
    Lupo,Vincenzo; Galindo, Máximo Ibo; Martínez-Rubio, Dolores; Sevilla, Teresa; Vílchez, Juan José; Palau, Francesc; Espinós-Armero, Carmen Ángeles (Oxford University Press, 2009-12-01)
    [EN] Mutations in SH3TC2 (KIAA1985) cause Charcot-Marie-Tooth disease (CMT) type 4C, a demyelinating inherited neuropathy characterized by early-onset and scoliosis. Here we demonstrate that the SH3TC2 protein is present ...
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    Mutant PRPF8 Causes Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells 
    Arzalluz-Luque, Ángeles; Cabrera, Jose Luis; Skottman, Heli; Benguria, Alberto; Bolinches-Amorós, Arantxa; Cuenca, Nicolás; Lupo, Vincenzo; Dopazo, Ana; Tarazona, Sonia; Delás, Bárbara; Carballo, Miguel; Pascual, Beatriz; Hernán, Imma; Erceg, Slaven; Lukovic, Dunja (Frontiers Media SA, 2021-04-29)
    [EN] Retinitis pigmentosa (RP) is a rare, progressive disease that affects photoreceptors and retinal pigment epithelial (RPE) cells with blindness as a final outcome. Despite high medical and social impact, there is ...
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    Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease 
    Sevilla, Teresa; Lupo, Vincenzo; Martínez-Rubio, Dolores; Sancho, Paula; Sivera, Rafael; Chumillas, María J.; García-Romero, Mar; Pascual-Pascual, Samuel I.; Muelas, Nuria; Dopazo, Joaquín; Vílchez, Juan J.; Palau, Francesc; Espinós-Armero, Carmen Ángeles (Oxford University Press, 2016-01-01)
    [EN] Charcot-Marie-Tooth disease (CMT) is a complex disorder with wide genetic heterogeneity. Here we present a new axonal Charcot-Marie-Tooth disease form, associated with the gene microrchidia family CW-type zinc finger ...
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    The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4 
    Claramunt, R.; Sevilla, Teresa; Lupo,Vincenzo; Cuesta, A.; Millán, J.M.; Vilchez, Juan J.; Palau, F.; Espinós-Armero, Carmen Ángeles (Blackwell Publishing, 2007-04)
    [EN] Charcot-Marie-Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of hereditary motor and sensory neuropathy (HMSN). When we began this study, three genes or loci associated with inherited ...