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2,326 Possible Causes for E1, V ATPase,, human, subunit

  • Distal Renal Tubular Acidosis

    Congenital distal renal tubular acidosis (RTA) from mutations of the B1 subunit of V-ATPase is considered an autosomal recessive disease.[] J Pediatr. 2014;164(4):691-698.e1. DOI: García-de la Puente S. Acidosis tubular renal. Acta Pediatr Mex. 2006;27(5):268-278.[] ATPases ATP6V1B1 protein, human[] J Pediatr 2014; 164 :691–698.e1. 8. Chu CY, King J, Berrini M, et al.[]

  • Isolated Complex I Deficiency

    With the discovery of mutations in nuclear encoded complex I subunits, adequate pre- and postnatal counseling becomes available.[] Dichloroacetate, a structural analogue of pyruvate, inhibits E1 kinase, thereby keeping any residual E1 in its active, dephosphorylat-ed, form.[] Native PAGE with subsequent immunoblotting for complex V revealed impaired complex V assembly and accumulation of ATPase subcomplexes.[] Candidate genes can then be identified and tested for complementation on the basis of information from human and model organism genome projects.[]

  • Hyperkalemic Periodic Paralysis

    Thus, it is likely that the sodium channel alpha-subunit gene contains the HYPP mutation.[] Investigations The results of laboratory examination were as follows: 10.6 g%, Total Leukocyte Count: 10,500, Differential Leukocyte Count: N70 L26 M3 E1 B0, ESR: 12 mm/hr[] Androgens stimulate preoptic area Na K -ATPase activity in male rats. Neuro- sci Lett. 1987;78:97-100. Pompeo A, Nepa A, Maddestra M, Feliziani V, Genovesi N.[] Abstract Mutations in the human skeletal muscle Na channel underlie the autosomal dominant disease hyperkalemic periodic paralysis (HPP).[]

  • Cytomegalovirus Infection

    Antibody to these proteins is capable of neutralizing virus, and gB and gH are targets of investigational CMV subunit vaccines; however, although humoral responses are important[] Am J Emerg Med. 2015 Oct;33(10):1544.e1-2. doi: 10.1016/j.ajem.2015.07.028. Epub 2015 Jul 21.[] KEYWORDS: assembly and egress; herpesvirus; host virus interaction; human cytomegalovirus; v-ATPase[] In this study, we investigated the enacted role of autophagy in biological behavioral changes of human umbilical vein endothelial cell (HUVEC) infected with human cytomegalovirus[]

  • Hypokalemic Periodic Paralysis

    We examined the mRNA and protein levels of SUR2A, a K(ATP) channel subunit, in cells from patients (patient cells) and normal individuals (normal cells).[] ESPECIFICO PARA EPITELIO DE PORCO E83 IGE ESPECIFICO PARA EPITELIO DE RATAZANA E73 IGE ESPECIFICO PARA EPITELIO DE RATO E71 IGE ESPECIFICO PARA EPITELIO E CASPA DE GATO (E1[] Androgens stimulate preoptic area Na K -ATPase activity in male rats. Neuro- sci Lett. 1987;78:97-100. Pompeo A, Nepa A, Maddestra M, Feliziani V, Genovesi N.[] From Wikidata Jump to navigation Jump to search Human disease Hypokalemic familial periodic paralysis Hypokalemic periodic paralysis (disorder) Periodic paralysis I familial[]

  • Kohlschütter-Tönz Syndrome

    This group includes Rav2 (RAVE complex subunit 2) from yeast.[] Pyruvate Carboxylase Deficiency Pyruvate Dehydrogenase deficiency Pyruvate dehydrogenase E1-alpha deficiency Refsum disease; Rhizomelic Chrondrodysplasia Punctata: Type I[] Genetics, Medical University Innsbruck, Innsbruck, Austria Correspondence to: Johannes Zschocke, Division of Human Genetics, Medical University Innsbruck, Schöpfstr. 41,[] Geoffroy V, Schaefer E, Muller J, Chennen K, Flori E, Pelletier V, Poch O, et al: Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit[]

  • Intermediate Maple Syrup Urine Disease

    No detectable assembly of the F364C E1α subunit with normal E1β was observed during the 2 h chase.[] However, the level of E1 beta subunits is lower than that of normal cells, suggesting competition of the recombinant E1 alpha with the mutant form for assembly with E1 beta[] Conversely, human amnion epithelial cells (hAEC) may have utility as a hepatocyte substitute, and they share many of the characteristics of pluripotent embryonic stem cells[] The human E3 gene (ca. 20 kb) comprises 14 exons.[]

    Missing: V ATPase
  • Adenovirus Infection

    Vaccines prepared from purified subunits of adenovirus are under investigation. Resources Periodicals Evans, Jeff. "Viral Gastroenteritis On Board."[] We performed carbon labeling experiments with [1,2- 13 C]glucose or [U- 13 C]glutamine to evaluate metabolic alterations in the amniocyte-derived, E1-transformed 1G3 cell[] Here we established a humanized mouse model that reproduces features of acute and persistent HAdV infection.[] Vaccines prepared from purified subunits of adenovirus were as of 2004 under investigation.[]

    Missing: V ATPase
  • Normokalemic Periodic Paralysis

    OBJECTIVE: In this study, we aim to investigate the clinical features and Mutations of sodium channel alpha-subunit (SCN4A) genes in Chinese patients with normokalemic periodic[] -alpha deficiency PDHB Pyruvate dehydrogensae E1-beta deficiency PDHX Pyruvate dehydrogenase E3-binding protein deficiency PDSS1 Coenzyme Q10 deficiency PDSS2 Coenzyme Q10[] HyperPP is another example of the transcellular shift of K out of the cells, due to mutations in specific voltage-gated sodium channels (Na v Chs) in skeletal muscle cells[] We previously reported that R675Q mutation of human skeletal muscle voltage-gated sodium channel α subunit (SCN4A) may be the novel mutation which caused normoPP in Chinese[]

  • Propionic Acidemia

    PCC consists of two subunits, alpha and beta, encoded by the PCCA and PCCB genes, respectively.[] J Pediatr. 2007 Feb;150(2):192-7, 197.e1.[] […] aciduria D-2-hydroxyglutaric aciduria D-glyceric aciduria DDOST-CDG DK1-CDG DPAGT1-CDG DPM1-CDG DPM3-CDG Deafness-encephaloneuropathy-obesity-valvulopathy syndrome Defect in V-ATPase[] The infant's serum reduced mouse CFU-E and CFU-GM by 43 and 32%, respectively, compared with normal human sera, but had no effect on human CFU-GM in our culture system.[]