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Atp6v0a2

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https://www.readbyqxmd.com/read/27631729/polymicrogyria-and-myoclonic-epilepsy-in-autosomal-recessive-cutis-laxa-type-2a
#1
Rony Cohen, Ayelet Halevy, Sharon Aharoni, Dror Kraus, Osnat Konen, Lina Basel-Vanagaite, Hadassa Goldberg-Stern, Rachel Straussberg
Cutis laxa syndromes are rare inherited disorders of skin and connective tissue metabolism associated with variable systemic involvement. The main clinical manifestation is loose, wrinkled, redundant, inelastic skin, hypotonia, typical facies including short nose and down-slanting palpebral fissures, and varying degrees of developmental delay. The aim of this report is to describe two siblings diagnosed with a moderate form of ATP6V0A2-related cutis laxa with polymicrogyria (cobblestone-like brain dysgenesis)...
October 2016: Neurogenetics
https://www.readbyqxmd.com/read/26611489/impaired-atp6v0a2-expression-contributes-to-golgi-dispersion-and-glycosylation-changes-in-senescent-cells
#2
Miyako Udono, Kaoru Fujii, Gakuro Harada, Yumi Tsuzuki, Keishi Kadooka, Pingbo Zhang, Hiroshi Fujii, Maho Amano, Shin-Ichiro Nishimura, Kosuke Tashiro, Satoru Kuhara, Yoshinori Katakura
Many genes and signaling pathways have been found to be involved in cellular senescence program. In the present study, we have identified 16 senescence-associated genes by differential proteomic analysis of the normal human diploid fibroblast cell line, TIG-1, and focused on ATP6V0A2. The aim of this study is to clarify the role of ATP6V0A2, the causal gene for ARCL2, a syndrome of abnormal glycosylation and impaired Golgi trafficking, in cellular senescence program. Here we showed that ATP6V0A2 is critical for cellular senescence; impaired expression of ATP6V0A2 disperses the Golgi structure and triggers senescence, suggesting that ATP6V0A2 mediates these processes...
2015: Scientific Reports
https://www.readbyqxmd.com/read/26226211/male-fertility-and-apoptosis-in-normal-spermatogenesis-are-regulated-by-vacuolar-atpase-isoform-a2
#3
Mukesh K Jaiswal, Varkha Agrawal, Gajendra K Katara, Sahithi Pamarthy, Arpita Kulshrestha, Gerard Chaouat, Alice Gilman-Sachs, Kenneth D Beaman
The a2 isoform of vacuolar-ATPase (ATP6V0A2, referred to as a2V) is required for normal spermatogenesis and maturation of sperm. Treatment of male mice with anti-a2V disturbs the testicular cytokine/chemokine balance and leads to severe deficiencies of spermatogenesis. The aim of the present study was to investigate the role of a2V in male fertility and in the regulation of apoptotic pathways required for normal spermatogenesis in mice. To study the role of a2V single dose of anti-a2V monoclonal antibody or mouse IgG isotype (3μg/animal) was injected i...
November 2015: Journal of Reproductive Immunology
https://www.readbyqxmd.com/read/26020805/the-vacuolar-h-atpase-is-a-novel-therapeutic-target-for-glioblastoma
#4
Andrea Di Cristofori, Stefano Ferrero, Irene Bertolini, Gabriella Gaudioso, Maria Veronica Russo, Valeria Berno, Marco Vanini, Marco Locatelli, Mario Zavanone, Paolo Rampini, Thomas Vaccari, Manuela Caroli, Valentina Vaira
The vacuolar H+ ATPase (V-ATPase) is a proton pump responsible for acidification of cellular microenvironments, an activity exploited by tumors to survive, proliferate and resist to therapy. Despite few observations, the role of V-ATPase in human tumorigenesis remains unclear.We investigated the expression of ATP6V0C, ATP6V0A2, encoding two subunits belonging to the V-ATPase V0 sector and ATP6V1C, ATP6V1G1, ATPT6V1G2, ATP6V1G3, which are part of the V1 sector, in series of adult gliomas and in cancer stem cell-enriched neurospheres isolated from glioblastoma (GBM) patients...
July 10, 2015: Oncotarget
https://www.readbyqxmd.com/read/25641685/maldi-tof-ms-applied-to-apoc-iii-glycoforms-of-patients-with-congenital-disorders-affecting-o-glycosylation-comparison-with-two-dimensional-electrophoresis
#5
COMPARATIVE STUDY
Stéphanie Yen-Nicolaÿ, Céline Boursier, Marlène Rio, Dirk J Lefeber, Antoine Pilon, Nathalie Seta, Arnaud Bruneel
PURPOSE: The O-glycan abnormalities accompanying some congenital disorders of glycosylation, namely conserved oligomeric Golgi-congenital disorders of glycosylation (COG-CDGs) and ATP6V0A2-CDGs, are mainly detected using electrophoresis methods applied to circulating apolipoprotein C-III. The objective of this study was to evaluate the reliability of MALDI-TOF MS of apoC-III for the detection and characterization of CDG-associated O-glycan defects. EXPERIMENTAL DESIGN: plasmas from CDG-negative, COG-CDG, and ATP6V0A2-CDG patients were analyzed and results were compared to those obtained using 2DE followed by Western blot...
August 2015: Proteomics. Clinical Applications
https://www.readbyqxmd.com/read/25151476/genome-resequencing-and-bioinformatic-analysis-of-snp-containing-candidate-genes-in-the-autoimmune-vitiligo-smyth-line-chicken-model
#6
Hyeon-Min Jang, Gisela F Erf, Kaylee C Rowland, Byung-Whi Kong
BACKGROUND: The Smyth line (SL) chicken is the only animal model for autoimmune vitiligo that spontaneously displays all clinical and biological manifestations of the human disorder. To understand the genetic components underlying the susceptibility to develop SL vitiligo (SLV), whole genome resequencing analysis was performed in SLV chickens compared with non-vitiliginous parental Brown line (BL) chickens, which maintain a very low incidence rate of vitiligo. RESULTS: Illumina sequencing technology and reference based assembly on Red Jungle Fowl genome sequences were used...
2014: BMC Genomics
https://www.readbyqxmd.com/read/24555185/wrinkled-skin-and-fat-pads-in-patients-with-alg8-cdg-revisiting-skin-manifestations-in-congenital-disorders-of-glycosylation
#7
REVIEW
Dorus Kouwenberg, Thatjana Gardeitchik, Miski Mohamed, Dirk J Lefeber, Eva Morava
Glycosylation is the posttranslational coupling of sugar chains to proteins or lipids. Proper glycosylation is essential for normal protein structure, function, and trafficking. Mutations in the glycosylation pathway lead to a phenotypically heterogeneous group of metabolic disorders, the congenital disorders of glycosylation (CDG). Some of these conditions, including PMM2-CDG, frequently present with recognizable skin abnormalities such as abnormal fat distribution, skin wrinkling, or peau d'orange, whereas others, such as COG7-CDG and ATP6V0A2-CDG, have been described in association with cutis laxa: wrinkled, inelastic, and sagging skin...
January 2014: Pediatric Dermatology
https://www.readbyqxmd.com/read/24478233/autosomal-recessive-cutis-laxa-type-2a-arcl2a-mimicking-ehlers-danlos-syndrome-by-its-dermatological-manifestations-report-of-three-affected-patients
#8
Marie T Greally, Neale N Kalis, Wahid Agab, Kasim Ardati, Sanda Giurgea, Uwe Kornak, Lionel Van Maldergem
Through a survey of more than 20 patients with a specific subgroup of autosomal recessive congenital cutis laxa (ARCL), namely ATP6V0A2-related cutis laxa, we noted that the clinical findings on three patients included pretibial pseudo-ecchymotic skin lesions very similar to those found in classical Ehlers-Danlos syndrome. The finding is apparently age-related, occurring during the second decade in two of the three patients.
May 2014: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/23963297/clinical-and-biochemical-features-guiding-the-diagnostics-in-neurometabolic-cutis-laxa
#9
Thatjana Gardeitchik, Miski Mohamed, Björn Fischer, Martin Lammens, Dirk Lefeber, Baiba Lace, Michael Parker, Ki-Joong Kim, Bing C Lim, Johannes Häberle, Livia Garavelli, Sujatha Jagadeesh, Ariana Kariminejad, Deanna Guerra, Michel Leão, Riikka Keski-Filppula, Han Brunner, Leo Nijtmans, Bert van den Heuvel, Ron Wevers, Uwe Kornak, Eva Morava
Patients with cutis laxa (CL) have wrinkled, sagging skin with decreased elasticity. Skin symptoms are associated with variable systemic involvement. The most common, genetically highly heterogeneous form of autosomal recessive CL, ARCL2, is frequently associated with variable metabolic and neurological symptoms. Progeroid symptoms, dysmorphic features, hypotonia and psychomotor retardation are highly overlapping in the early phase of these disorders. This makes the genetic diagnosis often challenging. In search for discriminatory symptoms, we prospectively evaluated clinical, neurologic, metabolic and genetic features in our patient cohort referred for suspected ARCL...
July 2014: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/23936208/expression-of-a2-vacuolar-atpase-in-spermatozoa-is-associated-with-semen-quality-and-chemokine-cytokine-profiles-in-infertile-men
#10
Kuniaki Ota, Mukesh Kumar Jaiswal, Sivakumar Ramu, Rajasinjham Jeyendran, Joanne Kwak-Kim, Alice Gilman-Sachs, Kenneth D Beaman
BACKGROUND: A number of laboratory tests have been developed to determine properties of spermatozoa quality but few have been adopted into routine clinical use in place of the WHO semen analysis. We investigated whether Atp6v0a2 (a2 isoform of vacuolar ATPase) is associated with abnormal semen quality and changes in chemokine-cytokine profiles in infertile men. PATIENTS AND METHODS: Semen samples were collected from 35 healthy donors and 35 infertile men at the Andrology laboratory from August 2011 to June 2012...
2013: PloS One
https://www.readbyqxmd.com/read/23430531/bone-dysplasia-as-a-key-feature-in-three-patients-with-a-novel-congenital-disorder-of-glycosylation-cdg-type-ii-due-to-a-deep-intronic-splice-mutation-in-tmem165
#11
R Zeevaert, F de Zegher, L Sturiale, D Garozzo, M Smet, M Moens, G Matthijs, J Jaeken
Three patients belonging to two families presented with a psychomotor-dysmorphism syndrome including postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Other features were muscular hypotrophy, fat excess, partial growth hormone deficiency, and, in two of the three patients, episodes of unexplained fever. Additional investigations showed mild to moderate increases of serum transaminases (particularly of aspartate transaminase (AST)), creatine kinase (CK), and lactate dehydrogenase (LDH), as well as decreased coagulation factors VIII, IX, XI, and protein C...
2013: JIMD Reports
https://www.readbyqxmd.com/read/22773132/further-characterization-of-atp6v0a2-related-autosomal-recessive-cutis-laxa
#12
Björn Fischer, Aikaterini Dimopoulou, Johannes Egerer, Thatjana Gardeitchik, Alexa Kidd, Dominik Jost, Hülya Kayserili, Yasemin Alanay, Iliana Tantcheva-Poor, Elisabeth Mangold, Cornelia Daumer-Haas, Shubha Phadke, Reto I Peirano, Julia Heusel, Charu Desphande, Neerja Gupta, Arti Nanda, Emma Felix, Elisabeth Berry-Kravis, Madhulika Kabra, Ron A Wevers, Lionel van Maldergem, Stefan Mundlos, Eva Morava, Uwe Kornak
Autosomal recessive cutis laxa (ARCL) syndromes are phenotypically overlapping, but genetically heterogeneous disorders. Mutations in the ATP6V0A2 gene were found to underlie both, autosomal recessive cutis laxa type 2 (ARCL2), Debré type, and wrinkly skin syndrome (WSS). The ATP6V0A2 gene encodes the a2 subunit of the V-type H(+)-ATPase, playing a role in proton translocation, and possibly also in membrane fusion. Here, we describe a highly variable phenotype in 13 patients with ARCL2, including the oldest affected individual described so far, who showed strikingly progressive dysmorphic features and heterotopic calcifications...
November 2012: Human Genetics
https://www.readbyqxmd.com/read/22584409/glycosylation-disorders-of-membrane-trafficking
#13
REVIEW
Claire Rosnoblet, Romain Peanne, Dominique Legrand, François Foulquier
During evolution from prokaryotic to eukaryotic cells, compartmentalization of cellular functions has been achieved with a high degree of complexity. Notably, all secreted and transmembrane proteins travel through endoplasmic reticulum (ER) and Golgi apparatus, where they are synthesized, folded and subjected to covalent modifications, most particularly glycosylation. N-glycosylation begins in the ER with synthesis and transfer of glycan onto nascent protein and proceeds in Golgi apparatus where maturation occurs...
January 2013: Glycoconjugate Journal
https://www.readbyqxmd.com/read/22454532/v-atpase-upregulation-during-early-pregnancy-a-possible-link-to-establishment-of-an-inflammatory-response-during-preimplantation-period-of-pregnancy
#14
Mukesh K Jaiswal, Timothy M Mallers, Benjamin Larsen, Joanne Kwak-Kim, Gerard Chaouat, Alice Gilman-Sachs, Kenneth D Beaman
Various mechanisms exist to prevent a potentially deleterious maternal immune response that results in compromising survival of semiallogeneic fetus. In pregnancy, there is a necessary early preimplantation inflammatory stage followed by a postimplantation anti-inflammatory stage. Thus, there is a biphasic 'immune response' observed during the course of pregnancy. We provide the evidence that capacitation of sperm induced the expression of a2 isoform of V-ATPase (ATP6V0A2 referred to as a2V), leukemia inhibitory factor (Lif), Il1b, and Tnf in the sperm...
May 2012: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/22221850/abortion-prone-mating-influences-alteration-of-systemic-a2-vacuolar-atpase-expression-in-spleen-and-blood-immune-cells
#15
Mukesh K Jaiswal, Timothy M Mallers, Christina Kwong, Gerard Chaouat, Alice Gilman-Sachs, Kenneth D Beaman
PROBLEM: a2 isoform of vacuolar ATPase (Atp6v0a2) is important for maintaining the delicate immunological balance required for successful pregnancy. The objective of this investigation is to study the dynamic changes in spleen and blood that appear during spontaneous abortion in mice. METHOD OF STUDY: Atp6v0a2 was measured in multiple immune cell populations from spleen and blood recovered from non-abortion-prone and abortion-prone mating combinations. RESULTS: Atp6v0a2 expression was significantly lower (P ≤ 0...
May 2012: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/21593477/placental-atpase-expression-is-a-link-between-multiple-causes-of-spontaneous-abortion-in-mice
#16
Mukesh Kumar Jaiswal, Alice Gilman-Sachs, Gerard Chaouat, Kenneth D Beaman
The a2 isoform of vacuolar ATPase (ATP6V0A2 referred to as a2V) plays a pivotal role in successful pregnancy and provides a microenvironment to maintain the delicate immunological balance at the feto-maternal interaction. We studied the expression of a2V mRNA in embryos and placenta of abortion-prone (female CBA × male DBA) murine matings or LPS (lipopolysaccharide)-treated mice. The expression of a2V was significantly higher in the placentas of nonabortion-prone (female BALB/c × male BALB/c and female CBA × male BALB/c) matings compared with the abortion-prone (female CBA × male DBA) mating...
September 2011: Biology of Reproduction
https://www.readbyqxmd.com/read/21431621/metabolic-cutis-laxa-syndromes
#17
REVIEW
Miski Mohamed, Dorus Kouwenberg, Thatjana Gardeitchik, Uwe Kornak, Ron A Wevers, Eva Morava
Cutis laxa is a rare skin disorder characterized by wrinkled, redundant, inelastic and sagging skin due to defective synthesis of elastic fibers and other proteins of the extracellular matrix. Wrinkled, inelastic skin occurs in many cases as an acquired condition. Syndromic forms of cutis laxa, however, are caused by diverse genetic defects, mostly coding for structural extracellular matrix proteins. Surprisingly a number of metabolic disorders have been also found to be associated with inherited cutis laxa...
August 2011: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/21362473/clinical-and-diagnostic-approach-in-unsolved-cdg-patients-with-a-type-2-transferrin-pattern
#18
M Mohamed, M Guillard, S B Wortmann, S Cirak, E Marklova, H Michelakakis, E Korsch, M Adamowicz, B Koletzko, F J van Spronsen, K E Niezen-Koning, G Matthijs, T Gardeitchik, D Kouwenberg, B Chan Lim, R Zeevaert, R A Wevers, D J Lefeber, E Morava
Dysmorphic features, multisystem disease, and central nervous system involvement are common symptoms in congenital disorders of glycosylation, including several recently discovered Golgi-related glycosylation defects. In search for discriminative features, we assessed eleven children suspected with a Golgi-related inborn error of glycosylation. We evaluated all genetically unsolved patients, diagnosed with a type 2 transferrin isofocusing pattern in the period of 1999-2009. By combining biochemical results with characteristic clinical symptoms, we used a diagnostic flow chart to approach the underlying defect in patients with congenital disorders of glycosylation-IIx...
June 2011: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/21273509/plasma-n-glycan-profiling-by-mass-spectrometry-for-congenital-disorders-of-glycosylation-type-ii
#19
Maïlys Guillard, Eva Morava, Floris L van Delft, Rosie Hague, Christian Körner, Maciej Adamowicz, Ron A Wevers, Dirk J Lefeber
BACKGROUND: Determination of the genetic defect in patients with a congenital disorder of glycosylation (CDG) is challenging because of the wide clinical presentation, the large number of gene products involved, and the occurrence of secondary causes of underglycosylation. Transferrin isoelectric focusing has been the method of choice for CDG screening; however, improved methods are required for the molecular diagnosis of patients with CDG type II. METHODS: Plasma samples with a typical transferrin isofocusing profile were analyzed...
April 2011: Clinical Chemistry
https://www.readbyqxmd.com/read/19401719/autosomal-recessive-cutis-laxa-syndrome-revisited
#20
REVIEW
Eva Morava, Maïlys Guillard, Dirk J Lefeber, Ron A Wevers
The clinical spectrum of the autosomal recessive cutis laxa syndromes is highly heterogeneous with respect to organ involvement and severity. One of the major diagnostic criteria is to detect abnormal elastin fibers. In several other clinically similar autosomal recessive syndromes, however, the classic histological anomalies are absent, and the definite diagnosis remains uncertain. In cutis laxa patients mutations have been demonstrated in elastin or fibulin genes, but in the majority of patients the underlying genetic etiology remains unknown...
September 2009: European Journal of Human Genetics: EJHG
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