Search Results - "Cantarero, Lara"
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Mitochondria–lysosome membrane contacts are defective in GDAP1-related Charcot–Marie–Tooth disease
Published in Human molecular genetics (21-01-2021)“…Abstract Mutations in the GDAP1 gene cause Charcot–Marie–Tooth (CMT) neuropathy. GDAP1 is an atypical glutathione S-transferase (GST) of the outer…”
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VRK1 phosphorylates and protects NBS1 from ubiquitination and proteasomal degradation in response to DNA damage
Published in Biochimica et biophysica acta (01-04-2016)“…NBS1 is an early component in DNA-Damage Response (DDR) that participates in the initiation of the responses aiming to repair double-strand breaks caused by…”
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ANKK1 Is a Wnt/PCP Scaffold Protein for Neural F-ACTIN Assembly
Published in International journal of molecular sciences (01-10-2024)“…The IA polymorphism is a marker of both the Ankyrin Repeat and Kinase Domain containing I gene ( ) encoding a RIP-kinase, and the gene for the dopamine…”
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Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites
Published in Biology open (15-04-2023)“…GDAP1 pathogenic variants cause Charcot-Marie-Tooth (CMT) disease, the most common hereditary motor and sensory neuropathy. CMT-GDAP1 can be axonal or…”
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VRK1 regulates Cajal body dynamics and protects coilin from proteasomal degradation in cell cycle
Published in Scientific reports (12-06-2015)“…Cajal bodies (CBs) are nuclear organelles associated with ribonucleoprotein functions and RNA maturation. CBs are assembled on coilin, its main scaffold…”
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Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases
Published in Frontiers in neuroscience (31-01-2022)“…Mitochondrial network is constantly in a dynamic and regulated balance of fusion and fission processes, which is known as mitochondrial dynamics. Mitochondria…”
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First person – Lara Cantarero
Published in Biology open (01-04-2023)“…ABSTRACT First Person is a series of interviews with the first authors of a selection of papers published in Biology Open, helping researchers promote…”
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VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes
Published in Scientific reports (16-09-2019)“…Very rare polymorphisms in the human VRK1 (vaccinia-related kinase 1) gene have been identified in complex neuromotor phenotypes associated to spinal muscular…”
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Neuroinflammation in the pathogenesis of axonal Charcot-Marie-Tooth disease caused by lack of GDAP1
Published in Experimental neurology (01-10-2019)“…Mutations in the GDAP1 mitochondrial outer membrane gene cause Charcot-Marie-Tooth (CMT) neuropathy. Reduction or absence of GDAP1 has been associated with…”
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Effective therapeutic strategies in a preclinical mouse model of Charcot–Marie–Tooth disease
Published in Human molecular genetics (30-11-2021)“…Abstract Charcot–Marie–Tooth (CMT) disease is a neuropathy that lacks effective therapy. CMT patients show degeneration of peripheral nerves, leading to muscle…”
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The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor protein-dependent mechanism
Published in The Journal of neuroscience (21-01-2015)“…Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH) is an infantile SMA variant with additional manifestations, particularly severe microcephaly…”
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CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
Published in Clinical genetics (01-05-2022)“…CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of…”
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