Neurosciences

Synaptic dysfunction in brain disorders

María A.  Martínez
María A. Martínez
IBiS
Campus Hospital Universitario Virgen del Rocío
Avda. Manuel Siurot, s/n.
41013 · Sevilla

Laboratory: 107
F. Manuel Gómez
F. Manuel Gómez
IBiS
Campus Hospital Universitario Virgen del Rocío
Avda. Manuel Siurot, s/n.
41013 · Sevilla
Laboratory: 107

María A.  Martínez

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  1. Group members
  2. Research areas
  3. Publications

Group: Synaptic dysfunction in brain disorders

Directory
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  • Arias Aragón, Francisco.Ldo. en Biología. Becario FPI.
  • Gómez , F. Manuel.PhD of Science. Associate Professor (University of Seville).
  • Martínez , María A. .PhD in Biology. Staff Scientist (CSIC).
  • Pérez Cano, Ana María.Becaria Predoctoral JAE Intro

Research areas

  • Our research is focused on the study of prevalent brain disorders, such as Alzheimer's disease, autism and other neurological disorders, combining Neurobiology and Human Genetics approaches. To this aim, we study the molecular mechanisms that mediate synapse formation in normal conditions and in brain disorders. Our specific aims are:

    • The study of the synaptic pathway mediated by adhesion molecules such as neurexins and neuroligins in normal conditions and how this is affected in brain disorders.
    • The phenotypic and molecular characterization of animal models that reproduce genetic alterations identified in patients.
    • The identification of genetic variants associated with brain disorders, mainly Alzheimer's disease and autism.

    To reach these goals, we follow a combined approach that includes behavioral assays in mouse models, cellular and molecular neurobiology approaches and the study of synapse function using imaging techniques, among others.

International Journals
Carbonell-Corvillo P, Tristán-Clavijo E, Cabrera-Serrano M, Servián-Morilla E, García-Martín G, Villarreal-Pérez L, Rivas-Infante E, Area-Gómez E, Chamorro-Muñoz MI, Gil-Gálvez A, Miranda-Vizuete A, Martinez-Mir A, Laing N, Paradas C.
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain.
Neuromuscul Disord.
Servián-Morilla E, Robles-Lanuza E, Sánchez-Hidalgo AC, Camacho-Garcia RJ, Paez-Gomez JA, Mavillard F, Saura CA, Martinez-Mir A, Scholl FG.
Proteolytic Processing of Neurexins by Presenilins Sustains Synaptic Vesicle Release (1)
J Neurosci.
Ardiles AO, et. al.
Molecular and Cellular Mechanisms of Synaptopathies.
Neural Plast. 2017;2017:2643943. doi: 10.1155/2017/2643943. Epub 2017 Apr 30.
Servián-Morilla E, et. al.
Proteolytic Processing of Neurexins by Presenilins Sustains Synaptic Vesicle Release
J Neurosci. 2017 Dec 11. pii: 1357-17. doi: 10.1523
Tristán-Clavijo E, et. al.
Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia
Mov Disord. 2016 Aug 1. doi: 10.1002/mds.26737
Torrico B, et. al.
Lack of replication of previous autism spectrum disorder GWAS hits in European populations
Autism Res. 2016 Jul 15. doi: 10.1002/aur.1662
Mondejar R, et. al.
Analysis of CCM1 expression uncovers novel minor-form exons and variable splicing patterns
Genes Genom (2016) 38:879–889
Tristán-Clavijo E, et. al.
A truncating mutation in Alzheimer's disease inactivates neuroligin-1 synaptic function.
Neurobiol Aging. 2015 Sep 10. pii: S0197-4580(15)00450-9. doi: 10.1016/j.neurobiolaging.2015.09.004.