Lista de obras -

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

artículo científico publicado en 2013

A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system

artículo científico publicado en 2013

A mouse model for SPG48 reveals a block of autophagic flux upon disruption of adaptor protein complex five

artículo científico publicado en 2019

A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule

artículo científico publicado en 2012

A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif

artículo científico publicado en 2017

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction

artículo científico publicado en 2017

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.

artículo científico publicado en 2013

A spastic paraplegia mouse model reveals REEP1-dependent ERshaping.

artículo científico publicado en 2014

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia

artículo científico publicado en 2008

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

scientific article published on 19 July 2020

Ca-activated Cl currents in the murine vomeronasal organ enhance neuronal spiking but are dispensable for male-male aggression

artículo científico publicado en 2018

Cadherins and neuropsychiatric disorders ⬇️

artículo científico publicado el 2 de julio de 2012

Channelopathies of transepithelial transport and vesicular function

artículo científico publicado en 2008

Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant

artículo científico publicado en 2015

Combined genetic disruption of K-Cl cotransporters and Gardos channel KCNN4 rescues erythrocyte dehydration in the SAD mouse model of sickle cell disease

scientific article published on 17 July 2019

Corrigendum to "Combined genetic disruption of K-Cl cotransporters and Gardos channel KCNN4 rescues erythrocyte dehydration in the SAD mouse model of sickle cell disease" [Blood Cells Mol. Dis. (2019) start page-end page not yet assigned] https://do

artículo científico publicado en 2020

DNA Methylation-Mediated Modulation of Endocytosis as Potential Mechanism for Synaptic Function Regulation in Murine Inhibitory Cortical Interneurons

artículo científico publicado en 2020

Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4.

artículo científico publicado en 2002

Disruption of Slc4a10 augments neuronal excitability and modulates synaptic short-term plasticity

artículo científico publicado en 2015

Disruption of erythroid K-Cl cotransporters alters erythrocyte volume and partially rescues erythrocyte dehydration in SAD mice

artículo científico publicado en 2007

Disruption of vascular Ca2+-activated chloride currents lowers blood pressure

artículo científico publicado en 2014

Double Knockout of the Na+-Driven Cl-/HCO3- Exchanger and Na+/Cl- Cotransporter Induces Hypokalemia and Volume Depletion.

artículo científico publicado en 2016

ER-phagy and human diseases

scientific article published on 28 October 2019

Early Hearing Loss upon Disruption of Slc4a10 in C57BL/6 Mice

scientific article published on 18 April 2019

Early expression of KCC2 in rat hippocampal cultures augments expression of functional GABA synapses

artículo científico publicado en 2005

Enhanced Synaptic Activity and Epileptiform Events in the Embryonic KCC2 Deficient Hippocampus

artículo científico publicado en 2011

Estrogen-related receptor gamma and hearing function: evidence of a role in humans and mice

artículo científico publicado en 2013

Expression of the KCl cotransporter KCC2 parallels neuronal maturation and the emergence of low intracellular chloride

artículo científico publicado en 2004

Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology

artículo científico publicado en 2014

GABAergic Transmission during Brain Development: Multiple Effects at Multiple Stages

artículo científico publicado en 2017

Gain-of-function mutation in SCN11A causes itch and affects neurogenic inflammation and muscle function in Scn11a+/L799P mice

scientific article published on 20 August 2020

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

artículo científico publicado en 2011

Genetic disruption of KCC cotransporters in a mouse model of thalassemia intermedia

scientific article published on 25 November 2019

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

artículo científico publicado en 2016

Germ cell nuclear factor is a repressor of CRIPTO-1 and CRIPTO-3.

artículo científico publicado en 2006

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles

artículo científico publicado en 2016

Homeostatic plasticity and synaptic scaling in the adult mouse auditory cortex

artículo científico publicado en 2017

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11

scientific journal article

Intercalated Cell Depletion and Vacuolar H+-ATPase Mistargeting in an Ae1 R607H Knockin Model.

artículo científico publicado en 2016

Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing

artículo científico publicado en 2004

Ion channel diseases

artículo científico publicado en 2002

Ion channels: function unravelled by dysfunction

artículo científico publicado en 2004

Lack of the sodium-driven chloride bicarbonate exchanger NCBE impairs visual function in the mouse retina

artículo científico publicado en 2012

Leukoencephalopathy upon disruption of the chloride channel ClC-2.

artículo científico publicado en 2007

Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold

artículo científico publicado en 2003

Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.

artículo científico publicado en 2006

MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positives

artículo científico publicado en 2011

Maternal oxytocin triggers a transient inhibitory switch in GABA signaling in the fetal brain during delivery.

artículo científico publicado en 2006

MiT/TFE factors control ER-phagy via transcriptional regulation of FAM134B

artículo científico publicado en 2020

Mice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure threshold

artículo científico publicado en 2006

Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability

artículo científico publicado en 2007

Missense exchanges in the TTBK2 gene mutated in SCA11.

artículo científico publicado en 2009

Molecular and functional characterization of Kv4.2 and KChIP2 expressed in the porcine left ventricle

artículo científico publicado en 2007

Multiplex ligation-dependent probe amplification for identification of correctly targeted murine embryonic stem cell clones

artículo científico publicado en 2015

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

artículo científico publicado en 2009

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction

artículo científico publicado en 2013

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

artículo científico publicado en 2004

Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception

artículo científico publicado en 2016

N-ethylmaleimide activates a Cl−-independent component of K+ flux in mouse erythrocytes ⬇️

artículo científico publicado el 6 de marzo de 2013

NKCC1-Mediated GABAergic Signaling Promotes Postnatal Cell Death in Neocortical Cajal-Retzius Cells

artículo científico publicado en 2016

NKCC1-dependent GABAergic excitation drives synaptic network maturation during early hippocampal development

artículo científico publicado en 2009

Neurogenic mechanisms contribute to hypertension in mice with disruption of the K-Cl cotransporter KCC3.

artículo científico publicado en 2006

Neuronal carbonic anhydrase VII provides GABAergic excitatory drive to exacerbate febrile seizures ⬇️

artículo científico publicado el 23 de julio de 2013

New Findings on the Pathogenesis of Distal Renal Tubular Acidosis.

artículo científico publicado en 2017

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss

artículo científico publicado en 2011

Overexpression of pendrin in intercalated cells produces chloride-sensitive hypertension.

artículo científico publicado en 2013

Pathogenesis of hypertension in a mouse model for human CLCN2 related hyperaldosteronism

artículo científico publicado en 2019

Plasmodium induces swelling-activated ClC-2 anion channels in the host erythrocyte

artículo científico publicado en 2004

ProSAP1 and membrane nanodomain-associated syndapin I promote postsynapse formation and function.

artículo científico publicado en 2014

Raising cytosolic Cl- in cerebellar granule cells affects their excitability and vestibulo-ocular learning

artículo científico publicado en 2012

Rdh12 activity and effects on retinoid processing in the murine retina

scientific article published on 08 June 2009

Reduced tonic inhibition after stroke promotes motor performance and epileptic seizures

artículo científico publicado en 2016

Regulation of endoplasmic reticulum turnover by selective autophagy

artículo científico publicado en 2015

Regulation of vascular tone and arterial blood pressure: role of chloride transport in vascular smooth muscle

artículo científico publicado en 2015

Renal intercalated cells are rather energized by a proton than a sodium pump

artículo científico publicado en 2013

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle

artículo científico publicado en 2005

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle

article

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3

Sepsis induces long-lasting impairments in CD4+ T-cell responses despite rapid numerical recovery of T-lymphocyte populations

article

Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease

scientific article published on 01 March 2005

Splicing factor YBX1 mediates persistence of JAK2-mutated neoplasms

artículo científico publicado en 2020

Synaptic Glutamate Release Is Modulated by the Na+-Driven Cl−/HCO3−Exchanger Slc4a8 ⬇️

artículo científico publicado el 18 de mayo de 2011

Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function

artículo científico publicado en 2006

Thalamic afferents influence cortical progenitors via ephrin A5-EphA4 interactions

artículo científico publicado en 2014

The Actin Nucleator Cobl Is Critical for Centriolar Positioning, Postnatal Planar Cell Polarity Refinement, and Function of the Cochlea

scientific article published on 01 August 2018

The ClC-K2 Chloride Channel Is Critical for Salt Handling in the Distal Nephron.

artículo científico publicado en 2016

The DNA Methyltransferase 1 (DNMT1) Controls the Shape and Dynamics of Migrating POA-Derived Interneurons Fated for the Murine Cerebral Cortex

artículo científico publicado en 2016

The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of mice

artículo científico publicado en 2010

The Na+/H+ Exchanger Nhe1 Modulates Network Excitability via GABA Release

artículo científico publicado en 2019

The Na-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na reabsorption process in the renal cortical collecting ducts of mice

The forkhead transcription factor Foxi1 directly activates the AE4 promoter

scientific journal article

The murine Cl⁻/HCO⁻₃ exchanger Ae3 (Slc4a3) is not required for acid-base balance but is involved in magnesium handling by the kidney

artículo científico publicado en 2014

The sorting receptor Rer1 controls Purkinje cell function via voltage gated sodium channels

artículo científico publicado en 2017

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.

artículo científico publicado en 2015

Visual deprivation independent shift of ocular dominance induced by cross-modal plasticity

article

Guía para el uso y la interpretación de ensayos para el seguimiento de la autofagia (4ª edición)

artículo científico

Lista de obras de

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system

A mouse model for SPG48 reveals a block of autophagic flux upon disruption of adaptor protein complex five

A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule

A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.

A spastic paraplegia mouse model reveals REEP1-dependent ERshaping.

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

Ca-activated Cl currents in the murine vomeronasal organ enhance neuronal spiking but are dispensable for male-male aggression

Cadherins and neuropsychiatric disorders ⬇️

Channelopathies of transepithelial transport and vesicular function

Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant

Combined genetic disruption of K-Cl cotransporters and Gardos channel KCNN4 rescues erythrocyte dehydration in the SAD mouse model of sickle cell disease

Corrigendum to "Combined genetic disruption of K-Cl cotransporters and Gardos channel KCNN4 rescues erythrocyte dehydration in the SAD mouse model of sickle cell disease" [Blood Cells Mol. Dis. (2019) start page-end page not yet assigned] https://do

DNA Methylation-Mediated Modulation of Endocytosis as Potential Mechanism for Synaptic Function Regulation in Murine Inhibitory Cortical Interneurons

Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4.

Disruption of Slc4a10 augments neuronal excitability and modulates synaptic short-term plasticity

Disruption of erythroid K-Cl cotransporters alters erythrocyte volume and partially rescues erythrocyte dehydration in SAD mice

Disruption of vascular Ca2+-activated chloride currents lowers blood pressure

Double Knockout of the Na+-Driven Cl-/HCO3- Exchanger and Na+/Cl- Cotransporter Induces Hypokalemia and Volume Depletion.

ER-phagy and human diseases

Early Hearing Loss upon Disruption of Slc4a10 in C57BL/6 Mice

Early expression of KCC2 in rat hippocampal cultures augments expression of functional GABA synapses

Enhanced Synaptic Activity and Epileptiform Events in the Embryonic KCC2 Deficient Hippocampus

Estrogen-related receptor gamma and hearing function: evidence of a role in humans and mice

Expression of the KCl cotransporter KCC2 parallels neuronal maturation and the emergence of low intracellular chloride

Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology

GABAergic Transmission during Brain Development: Multiple Effects at Multiple Stages

Gain-of-function mutation in SCN11A causes itch and affects neurogenic inflammation and muscle function in Scn11a+/L799P mice

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

Genetic disruption of KCC cotransporters in a mouse model of thalassemia intermedia

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Germ cell nuclear factor is a repressor of CRIPTO-1 and CRIPTO-3.

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles

Homeostatic plasticity and synaptic scaling in the adult mouse auditory cortex

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11

Intercalated Cell Depletion and Vacuolar H+-ATPase Mistargeting in an Ae1 R607H Knockin Model.

Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing

Ion channel diseases

Ion channels: function unravelled by dysfunction

Lack of the sodium-driven chloride bicarbonate exchanger NCBE impairs visual function in the mouse retina

Leukoencephalopathy upon disruption of the chloride channel ClC-2.

Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold

Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.

MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positives

Maternal oxytocin triggers a transient inhibitory switch in GABA signaling in the fetal brain during delivery.

MiT/TFE factors control ER-phagy via transcriptional regulation of FAM134B

Mice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure threshold

Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability

Missense exchanges in the TTBK2 gene mutated in SCA11.

Molecular and functional characterization of Kv4.2 and KChIP2 expressed in the porcine left ventricle

Multiplex ligation-dependent probe amplification for identification of correctly targeted murine embryonic stem cell clones

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception

N-ethylmaleimide activates a Cl−-independent component of K+ flux in mouse erythrocytes ⬇️

NKCC1-Mediated GABAergic Signaling Promotes Postnatal Cell Death in Neocortical Cajal-Retzius Cells

NKCC1-dependent GABAergic excitation drives synaptic network maturation during early hippocampal development

Neurogenic mechanisms contribute to hypertension in mice with disruption of the K-Cl cotransporter KCC3.

Neuronal carbonic anhydrase VII provides GABAergic excitatory drive to exacerbate febrile seizures ⬇️

New Findings on the Pathogenesis of Distal Renal Tubular Acidosis.

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss

Overexpression of pendrin in intercalated cells produces chloride-sensitive hypertension.

Pathogenesis of hypertension in a mouse model for human CLCN2 related hyperaldosteronism

Plasmodium induces swelling-activated ClC-2 anion channels in the host erythrocyte

ProSAP1 and membrane nanodomain-associated syndapin I promote postsynapse formation and function.

Raising cytosolic Cl- in cerebellar granule cells affects their excitability and vestibulo-ocular learning

Rdh12 activity and effects on retinoid processing in the murine retina

Reduced tonic inhibition after stroke promotes motor performance and epileptic seizures

Regulation of endoplasmic reticulum turnover by selective autophagy

Regulation of vascular tone and arterial blood pressure: role of chloride transport in vascular smooth muscle

Renal intercalated cells are rather energized by a proton than a sodium pump

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3

Sepsis induces long-lasting impairments in CD4+ T-cell responses despite rapid numerical recovery of T-lymphocyte populations