ERK MAPK signaling pathway inhibition as a potential target to prevent autophagy alterations in Spinal Muscular Atrophy motoneurons

Autor: Alba Sansa, Maria P. Miralles, Maria Beltran, Ferran Celma-Nos, Jordi Calderó, Ana Garcera, Rosa M. Soler

Publikováno v: Cell Death Discovery, Vol 9, Iss 1, Pp 1-11 (2023)

Abstract Spinal Muscular Atrophy (SMA) is a severe genetic neuromuscular disorder that occurs in childhood and is caused by misexpression of the survival motor neuron (SMN) protein. SMN reduction induces spinal cord motoneuron (MN) degeneration, whic

Externí odkaz: https://doaj.org/article/7f17bffa2fa34d3ba5d982e79730d9e4

Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases

Autor: José Luis Fuster, Ferran Celma Nos, Begoña Navarro-Almenzar, Ines Hernandez-Rodriguez, Xènia Ferrer-Cortès, Gonzalo Hernández, Mar Bermúdez Cortés, Santiago Pérez-Montero, Mayka Sanchez, Cristian Tornador

Publikováno v: International Journal of Molecular Sciences
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
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International Journal of Molecular Sciences, Vol 22, Iss 5451, p 5451 (2021)

Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. This disorder is produced by mutations in the iron responsiv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::987d28460d00ea7caf69ed4d420fbc46
http://europepmc.org/articles/PMC8196845

S289: PPP1R1B BINDS IRON REGULATORY PROTEINS AND MODULATES IRON CELLULAR CONTENT

Autor: Laura Calvo López, Gonzalo Hernández, Ferran Celma Nos, Mayka Sanchez

Publikováno v: HemaSphere, Vol 7, p e532625e (2023)

Externí odkaz: https://doaj.org/article/970f9c395eaa45d9bac3be1afa35b993