Loreto Martorell
Overview
Explore the profile of Loreto Martorell including associated specialties, affiliations and a list of published articles.
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57
Citations
1196
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Recent Articles
11.
Nascimento A, Bruels C, Donkervoort S, Foley A, Codina A, Milisenda J, et al.
Acta Neuropathol
. 2023 Feb;
145(4):479-496.
PMID: 36799992
DTNA encodes α-dystrobrevin, a component of the macromolecular dystrophin-glycoprotein complex (DGC) that binds to dystrophin/utrophin and α-syntrophin. Mice lacking α-dystrobrevin have a muscular dystrophy phenotype, but variants in DTNA have...
12.
Sanchez-Sierra N, Perez-Somarriba M, Santa-Maria V, Cruz O, Garcia-Rey E, Martorell L, et al.
Pediatr Blood Cancer
. 2023 Jan;
70(5):e30177.
PMID: 36625393
No abstract available.
13.
Martorell L, Macaya A, Perez-Duenas B, Ortigoza-Escobar J
Mov Disord Clin Pract
. 2022 Oct;
9(7):979-982.
PMID: 36247910
No abstract available.
14.
Yubero D, Martorell L, Nunes T, Lyon G, Ortigoza-Escobar J
Mov Disord
. 2022 Oct;
37(11):2320-2321.
PMID: 36221186
No abstract available.
15.
Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan A, Stingl K, et al.
Proc Natl Acad Sci U S A
. 2022 Jun;
119(27):e2115538119.
PMID: 35759666
Blue cone monochromacy (BCM) is an X-linked retinal disorder characterized by low vision, photoaversion, and poor color discrimination. BCM is due to the lack of long-wavelength-sensitive and middle-wavelength-sensitive cone photoreceptor...
16.
Martorell L, Yubero D, Capdevila E, Fernandez Isern G, Salinas D, Mari Vico R, et al.
Clin Genet
. 2022 Feb;
101(5-6):575-576.
PMID: 35191016
No abstract available.
17.
Soliani L, Martorell L, Yubero D, Verges C, Petit V, Ortigoza-Escobar J
Mov Disord Clin Pract
. 2022 Feb;
9(2):252-254.
PMID: 35146065
No abstract available.
18.
Tamura N, Sakai S, Martorell L, Colome R, Mizuike A, Goto A, et al.
J Biol Chem
. 2021 Oct;
297(5):101338.
PMID: 34688657
The lipid molecule ceramide is transported from the endoplasmic reticulum to the Golgi apparatus for sphingomyelin production via the ceramide transport protein (CERT), encoded by CERT1. Hyperphosphorylation of CERT's serine-repeat...
19.
Paredes-Fuentes A, Cesar S, Montero R, Latre C, Genoves J, Martorell L, et al.
Biomed Pharmacother
. 2021 Sep;
143:112143.
PMID: 34507114
Introduction And Objectives: Despite the growing interest and the potential benefits of idebenone as a repurposed drug for different orphan conditions, data regarding its monitoring are scarce. Our main goal...
20.
Martinez-Monseny A, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, et al.
Int J Mol Sci
. 2021 Jun;
22(10).
PMID: 34068417
The gene encodes the pore-forming α subunit of the voltage-gated Ca2.1 Ca channel, essential in neurotransmission, especially in Purkinje cells. Mutations in result in great clinical heterogeneity with progressive symptoms,...