selected publications
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Propofol rescues voltage-dependent gating of HCN1 channel epilepsy mutants.
Nature.
2024
Academic Article
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Times cited: 12 -
In or out of the groove? Mechanisms of lipid scrambling by TMEM16 proteins.
Cell calcium.
2024
Review
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Times cited: 1 - Phospholipid scrambling by a TMEM16 homolog of Arabidopsis thaliana. The FEBS journal. 2021 Academic Article GET IT
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Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
2020
Academic Article
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Times cited: 2 -
TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling.
Human mutation.
2020
Academic Article
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Times cited: 4 -
Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.
Human mutation.
2017
Academic Article
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Times cited: 36 -
Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia.
Cellular and molecular life sciences : CMLS.
2017
Academic Article
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Times cited: 52 - Targeting of PHOX2B expression allows the identification of drugs effective in counteracting neuroblastoma cell growth. Oncotarget. 2017 Academic Article GET IT
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The signaling lipid phosphatidylinositol-3,5-bisphosphate targets plant CLC-a anion/H+ exchange activity.
EMBO reports.
2017
Academic Article
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Times cited: 49 -
Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.
Biochimica et biophysica acta. Molecular basis of disease.
2017
Academic Article
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Times cited: 17 -
miR-204 mediates post-transcriptional down-regulation of PHOX2B gene expression in neuroblastoma cells.
Biochimica et biophysica acta.
2015
Academic Article
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Times cited: 15 -
Identification of novel pathways and molecules able to down-regulate PHOX2B gene expression by in vitro drug screening approaches in neuroblastoma cells.
Experimental cell research.
2015
Academic Article
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Times cited: 8 -
Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS).
Annals of the rheumatic diseases.
2012
Academic Article
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Times cited: 60 -
Beneficial effects of curcumin on GFAP filament organization and down-regulation of GFAP expression in an in vitro model of Alexander disease.
Experimental cell research.
2012
Academic Article
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Times cited: 19 -
The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B.
Journal of molecular medicine (Berlin, Germany).
2012
Academic Article
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Times cited: 14 -
In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins.
Neurobiology of disease.
2011
Academic Article
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Times cited: 25 -
A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activities.
Annals of human genetics.
2010
Academic Article
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Times cited: 11 -
In vitro treatments with ceftriaxone promote elimination of mutant glial fibrillary acidic protein and transcription down-regulation.
Experimental cell research.
2010
Academic Article
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Times cited: 30 -
Ceftriaxone has a therapeutic role in Alexander disease.
Progress in neuro-psychopharmacology & biological psychiatry.
2009
Article
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Times cited: 11 -
Differential role of NADP+ and NADPH in the activity and structure of GDP-D-mannose 4,6-dehydratase from two chlorella viruses.
The Journal of biological chemistry.
2007
Academic Article
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Times cited: 27