Search Results - "Ortega, Bernardo"

Removal of sialic acid involving Klotho causes cell-surface retention of TRPV5 channel via binding to galectin-1 by Cha, Seung-Kuy, Ortega, Bernardo, Kurosu, Hiroshi, Rosenblatt, Kevin P, Kuro-o, Makoto, Huang, Chou-Long

“…Klotho is a mammalian senescence-suppression protein that has homology with glycosidases. The extracellular domain of Klotho is secreted into urine and blood…”
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CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis by Genin, Emmanuelle C, Plutino, Morgane, Bannwarth, Sylvie, Villa, Elodie, Cisneros‐Barroso, Eugenia, Roy, Madhuparna, Ortega‐Vila, Bernardo, Fragaki, Konstantina, Lespinasse, Françoise, Pinero‐Martos, Estefania, Augé, Gaëlle, Moore, David, Burté, Florence, Lacas‐Gervais, Sandra, Kageyama, Yusuke, Itoh, Kie, Yu‐Wai‐Man, Patrick, Sesaki, Hiromi, Ricci, Jean‐Ehrland, Vives‐Bauza, Cristofol, Paquis‐Flucklinger, Véronique

“…CHCHD10 ‐related diseases include mitochondrial DNA instability disorder, frontotemporal dementia‐amyotrophic lateral sclerosis (FTD‐ALS) clinical spectrum,…”
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A Common Signal Patch Drives AP-1 Protein-dependent Golgi Export of Inwardly Rectifying Potassium Channels by Li, Xiangming, Ortega, Bernardo, Kim, Boyoung, Welling, Paul A.

“…Nearly all members of the inwardly rectifying potassium (Kir) channel family share a cytoplasmic domain structure that serves as an unusual AP-1 clathrin…”
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Golgi Export of the Kir2.1 Channel Is Driven by a Trafficking Signal Located within Its Tertiary Structure by Ma, Donghui, Taneja, Tarvinder Kaur, Hagen, Brian M., Kim, Bo-Young, Ortega, Bernardo, Lederer, W. Jonathan, Welling, Paul A.

“…Mechanisms that are responsible for sorting newly synthesized proteins for traffic to the cell surface from the Golgi are poorly understood. Here, we show that…”
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WNK1 Activates SGK1 to Regulate the Epithelial Sodium Channel by Bing-e Xu, Stippec, Steve, Chu, Po-Yin, Lazrak, Ahmed, Li, Xin-Ji, Lee, Byung-Hoon, English, Jessie M., Ortega, Bernardo, Huang, Chou-Long, Cobb, Melanie H., Garbers, David L.

“…WNK (with no lysine [K]) kinases are serine-threonine protein kinases with an atypical placement of the catalytic lysine. Intronic deletions increase the…”
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Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases by Genin, Emmanuelle C., Bannwarth, Sylvie, Lespinasse, Françoise, Ortega-Vila, Bernardo, Fragaki, Konstantina, Itoh, Kie, Villa, Elodie, Lacas-Gervais, Sandra, Jokela, Manu, Auranen, Mari, Ylikallio, Emil, Mauri-Crouzet, Alessandra, Tyynismaa, Henna, Vihola, Anna, Augé, Gaelle, Cochaud, Charlotte, Sesaki, Hiromi, Ricci, Jean-Ehrland, Udd, Bjarne, Vives-Bauza, Cristofol, Paquis-Flucklinger, Véronique

“…Following the involvement of CHCHD10 in FrontoTemporal-Dementia-Amyotrophic Lateral Sclerosis (FTD-ALS) clinical spectrum, a founder mutation (p.Gly66Val) in…”
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1026 – Electroconvulsive therapy as an effective treatment in neuroleptic malignant syndrome: purposely a case by Ogando Portilla, N, Martinez Cortés, M, del Nido Varo, L, Torío Palmero, I, Ortega Bernardo, M.C, Jimenez-Arriero, M.A

“…Introduction NMS is an infrequent, life-threatening neurologic emergency usually associated with the use of neuroleptics and some other agents that affect…”
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1008 – Recurrent hyponatremia induced by antidepressants: purposely a case by Martínez Cortés, M, Ogando Portilla, N, Torio Palmero, I, Del Nido Varo, L, Ortega Bernardo, M.C, Jimenez Arriero, M.A

“…Introduction Hyponatremia is an antidepressants known adverse effect, ADH secretion has been postulated in its etiology. Objectives To identify risk factors…”
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CHCHD 10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis by Genin, Emmanuelle C, Plutino, Morgane, Bannwarth, Sylvie, Villa, Elodie, Cisneros‐Barroso, Eugenia, Roy, Madhuparna, Ortega‐Vila, Bernardo, Fragaki, Konstantina, Lespinasse, Françoise, Pinero‐Martos, Estefania, Augé, Gaëlle, Moore, David, Burté, Florence, Lacas‐Gervais, Sandra, Kageyama, Yusuke, Itoh, Kie, Yu‐Wai‐Man, Patrick, Sesaki, Hiromi, Ricci, Jean‐Ehrland, Vives‐Bauza, Cristofol, Paquis‐Flucklinger, Véronique

“…CHCHD10‐related diseases include mitochondrial DNA instability disorder, frontotemporal dementia‐amyotrophic lateral sclerosis (FTD‐ALS) clinical spectrum,…”
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Chloride secretion in a morphologically differentiated human colonic cell line that expresses the epithelial Na+ channel by Currid, Aoife, Ortega, Bernardo, Valverde, Miguel A.

“…Cell line models of colonic electrolyte transport have been extensively used despite lacking some of the characteristics of native tissue. While native colonic…”
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Reparación con Aortoplastía en un adulto con Coartación Aórtica by Ramírez Castañeda, Serafín, Ortega Zhindón, Diego Bernardo, Flores Calderón, Octavio

“…Presentamos un paciente masculino de 41 años, con antecedentes de hipertensión arterial sistémica, quien ingreso por dolor precordial y disnea. Se realizó…”
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A Tandem Di-hydrophobic Motif Mediates Clathrin-dependent Endocytosis via Direct Binding to the AP-2 ασ2 Subunits by Ortega, Bernardo, Mason, Amanda K., Welling, Paul A.

“…Select plasma membrane proteins can be marked as cargo for inclusion into clathrin-coated pits by common internalization signals (e.g. YXXΦ, dileucine motifs,…”
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EAST/SeSAME syndrome mutations partially disrupt trafficking of homomeric Kir4.1 channels and produce non‐functional heteromeric Kir2.3/Kir4.1 channels by Ortega, Bernardo, Li, Dimin, Kim, Bo-Young, Wade, James B, Welling, Paul A

“…Abstract only Mutations in Kir4.1 cause renal salt and Mg wasting (EAST/ SeSAME syndrome, E/S) within the DCT. We have recently found that WT Kir4.1…”
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An extended di‐isoleucine motif mediates Kir2.3 endocytosis via direct binding to the AP‐2 adaptin α/σ2 subunits by Ortega, Bernardo, Mason, Amanda K, Welling, Paul A

“…A prototypical basolateral membrane potassium channel, Kir2.3, contains a C‐terminal trafficking cassette comprised of a biosynthetic sorting signal, a PDZ…”
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Hyperphosphatemia, hypocalcemia and increased serum potassium concentration as distinctive features of early hypomagnesemia in magnesium-deprived mice by Ortega, Bernardo, MacWilliams, Jacob R, Dey, Jason M, Courtright, Valerie B

“…Magnesium-deficient patients show dysfunctional calcium (Ca(2+)) metabolism due to defective parathyroid hormone (PTH) secretion. In mice and rats, long-term…”
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Antibody‐mediated inhibition of EGFR reduces phosphate excretion and induces hyperphosphatemia and mild hypomagnesemia in mice by Ortega, Bernardo, Dey, Jason M., Gardella, Allison R., Proano, Jacob, Vaneerde, Deanna

“…Monoclonal antibody therapies targeting the EGF receptor (EGFR) frequently result in hypomagnesemia in human patients. In contrast, EGFR tyrosine kinase…”
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Tratamiento de las alteraciones de conducta secundarias a trastornos mentales comórbidos en la discapacidad intelectual by Ortega-Bernardo, María del Carmen, Flórez-Beledo, Jesús

“…A lo largo de todas las etapas evolutivas, las personas con discapacidad intelectual pueden presentar trastornos psiquiátricos comórbidos, que a menudo son…”
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EAST/SeSAME syndrome mutations disrupt function of heteromeric Kir2.3/Kir4.1 channels at the basolateral membrane of the distal nephron by Ortega, Bernardo, Li, Dimin, Kim, Bo‐Young, Wade, James B, Welling, Paul A

“…Basolateral inwardly rectifying K channels (Kir) in the distal nephron are essential for salt and mineral reabsorption. Mutations in Kir 4.1 cause profound…”
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The AP‐2 adaptin α/σ2 hemicomplex binds to a di‐isoleucine motif to mediate Kir2.3 endocytosis by Ortega, Bernardo, Masson, Amanda K, Welling, Paul A

“…Abstract only We have previously shown that a prototype basolateral membrane potassium channel, Kir2.3, contains a C‐terminal trafficking cassette comprised of…”
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Golgi Export of the Kir2.1 Channel is Driven by a Trafficking Signal Located within Tertiary Structure by Ma, Donghui, Taneja, Tarvinder Kaur, Hagen, Brian M., Kim, Bo-Young, Ortega, Bernardo, Lederer, W. Jonathan, Welling, Paul A.

“…Mechanisms responsible for sorting newly synthesized proteins for traffic to the cell surface from the Golgi are poorly understood. Here we show that the…”
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