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  1. Article: Novel Mutation m.10372A>G in

    Bruhn, Helene / Samuelsson, Kristin / Schober, Florian A / Engvall, Martin / Lesko, Nicole / Wibom, Rolf / Nennesmo, Inger / Calvo-Garrido, Javier / Press, Rayomand / Stranneheim, Henrik / Freyer, Christoph / Wedell, Anna / Wredenberg, Anna

    Neurology. Genetics

    2021  Volume 7, Issue 2, Page(s) e566

    Abstract: Objective: To investigate the pathogenicity of a novel : Methods: Clinical assessments and morphologic and biochemical investigations of skeletal muscle and cultured myoblasts from the patient were performed. Whole-genome sequencing (WGS) of DNA from ...

    Abstract Objective: To investigate the pathogenicity of a novel
    Methods: Clinical assessments and morphologic and biochemical investigations of skeletal muscle and cultured myoblasts from the patient were performed. Whole-genome sequencing (WGS) of DNA from skeletal muscle and Sanger sequencing of mitochondrial DNA (mtDNA) from both skeletal muscle and cultured myoblasts were performed. Heteroplasmic levels of mutated mtDNA in different tissues were quantified by last-cycle hot PCR.
    Results: Muscle showed ragged red fibers, paracrystalline inclusions, a significant reduction in complex I (CI) respiratory chain (RC) activity, and decreased adenosine triphosphate (ATP) production for all substrates used by CI. Sanger sequencing of DNA from skeletal muscle detected a unique previously unreported heteroplasmic mutation in mtDNA encoded
    Conclusions: We report a case with adult-onset sensorimotor axonal polyneuropathy caused by a novel mtDNA mutation in
    Language English
    Publishing date 2021-03-15
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2818607-2
    ISSN 2376-7839
    ISSN 2376-7839
    DOI 10.1212/NXG.0000000000000566
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  2. Article ; Online: Bilateral deafness, diabetes, and different types of cardiomyopathy in family members with m.3243A > g mutation: a case report.

    Seiler, Florian / Ruile, Philipp / Moser, Martin / Helbing, Thomas

    European heart journal. Case reports

    2023  Volume 7, Issue 2, Page(s) ytad073

    Abstract: ... particularly in the context of matrilinear transmission. m.3243A > G mutation is associated ... storage disease, Fabry disease, and infiltrative and inflammatory cardiac disease. Genetic testing revealed m ... 3243A > G mutation in the : Discussion: In patients with unexplained symmetric HCM with heterogenic ...

    Abstract Background: The point mutation at position 3243 in the mitochondrial
    Case summary: A 48-year-old male patient was admitted to a tertiary care hospital with chest pain and dyspnoea. Bilateral hearing loss required hearing aids at the age of 40. A short PQ interval, narrow QRS complex, and inverted T-waves in lateral leads were present on the electrocardiogram. HbA1c of 7.3 mmol/L indicated prediabetes. Echocardiography excluded valvular heart disease and detected non-obstructive HCM with slightly reduced left ventricular ejection fraction (48%). Coronary artery disease was ruled out by coronary angiography. Myocardial fibrosis determined by repeated cardiac MRI progressed over time. Endomyocardial biopsy excluded storage disease, Fabry disease, and infiltrative and inflammatory cardiac disease. Genetic testing revealed m.3243A > G mutation in the
    Discussion: In patients with unexplained symmetric HCM with heterogenic clinical phenotypes at the organ levels, mitochondrial disease should be taken into consideration, particularly in the context of matrilinear transmission. m.3243A > G mutation is associated with mitochondrial disease in the index patient and five family members and leads to the diagnosis of maternally inherited diabetes and deafness with intra-familial variability of different cardiomyopathy forms.
    Language English
    Publishing date 2023-02-15
    Publishing country England
    Document type Case Reports
    ISSN 2514-2119
    ISSN (online) 2514-2119
    DOI 10.1093/ehjcr/ytad073
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  3. Article ; Online: Comment on: Ferreira, M. G., et al. (2022) Effects of group Acceptance and Commitment Therapy (ACT) on anxiety and depressive symptoms in adults: A meta-analysis. J Affect Disord, 309, 297-308.

    Walsh, Sandra / Jones, Martin / Gray, Richard

    Journal of affective disorders

    2024  Volume 356, Page(s) 71

    Language English
    Publishing date 2024-03-27
    Publishing country Netherlands
    Document type Letter
    ZDB-ID 135449-8
    ISSN 1573-2517 ; 0165-0327
    ISSN (online) 1573-2517
    ISSN 0165-0327
    DOI 10.1016/j.jad.2024.03.146
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1485: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  4. Article ; Online: Reply to Francesco Montorsi, Simone Scuderi, Alberto Briganti, and Giorgio Gandaglia's Letter to the Editor re: Melline G.M. Schilham, Mark Rijpkema, Tom Scheenen, et al. How Advanced Imaging Will Guide Therapeutic Strategies for Patients with Newly Diagnosed Prostate Cancer in the Years to Come. Eur Urol 2022;82:578-80.

    Schilham, Melline G M / Rijpkema, Mark / Scheenen, Tom / Hermsen, Rick / Barentsz, Jelle O / Sedelaar, J P Michiel / Kusters-Vandevelde, Heidi / Kerkmeijer, Linda G W / Somford, Diederik M / Gotthardt, Martin

    European urology

    2023  Volume 83, Issue 5, Page(s) e133–e134

    MeSH term(s) Male ; Humans ; Prostatic Neoplasms/surgery ; Prostatectomy ; Patients
    Language English
    Publishing date 2023-02-11
    Publishing country Switzerland
    Document type Letter ; Comment
    ZDB-ID 193790-x
    ISSN 1873-7560 ; 1421-993X ; 0302-2838
    ISSN (online) 1873-7560 ; 1421-993X
    ISSN 0302-2838
    DOI 10.1016/j.eururo.2023.01.023
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1247: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 294: Show issues

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  5. Article ; Online: Current smoking status is associated with reduced sputum immunoglobulin M and G expression in COPD.

    Cass, Steven P / Yang, Yuqiong / Xiao, Jing / McGrath, Joshua J C / Fantauzzi, Matthew F / Thayaparan, Danya / Wang, Fengyan / Liang, Zhenyu / Long, Fei / Stevenson, Christopher S / Chen, Rongchang / Stampfli, Martin R

    The European respiratory journal

    2021  Volume 57, Issue 2

    MeSH term(s) Humans ; Immunoglobulin M ; Pulmonary Disease, Chronic Obstructive ; Smoking ; Sputum
    Chemical Substances Immunoglobulin M
    Language English
    Publishing date 2021-02-04
    Publishing country England
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 639359-7
    ISSN 1399-3003 ; 0903-1936
    ISSN (online) 1399-3003
    ISSN 0903-1936
    DOI 10.1183/13993003.02338-2019
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2322: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 292: Show issues

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  6. Article ; Online: Paulomycin G, a New Natural Product with Cytotoxic Activity against Tumor Cell Lines Produced by Deep-Sea Sediment Derived Micromonospora matsumotoense M-412 from the Avilés Canyon in the Cantabrian Sea.

    Sarmiento-Vizcaíno, Aida / Braña, Alfredo F / Pérez-Victoria, Ignacio / Martín, Jesús / de Pedro, Nuria / Cruz, Mercedes de la / Díaz, Caridad / Vicente, Francisca / Acuña, José L / Reyes, Fernando / García, Luis A / Blanco, Gloria

    Marine drugs

    2017  Volume 15, Issue 9

    Abstract: ... designated as paulomycin G ( ...

    Abstract The present article describes a structurally novel natural product of the paulomycin family, designated as paulomycin G (
    Language English
    Publishing date 2017-08-28
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2175190-0
    ISSN 1660-3397 ; 1660-3397
    ISSN (online) 1660-3397
    ISSN 1660-3397
    DOI 10.3390/md15090271
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  7. Article ; Online: The G-M-N motif determines ion selectivity in the yeast magnesium channel Mrs2p.

    Sponder, Gerhard / Svidová, Soňa / Khan, Muhammad Bashir / Kolisek, Martin / Schweyen, Rudolf J / Carugo, Oliviero / Djinović-Carugo, Kristina

    Metallomics : integrated biometal science

    2013  Volume 5, Issue 6, Page(s) 745–752

    Abstract: The highly conserved G-M-N motif of the CorA-Mrs2-Alr1 family of Mg(2+) channels has been shown ... to be essential for Mg(2+) transport. We performed random mutagenesis of the G-M-N sequence ... but predominantly all three amino acids of the G-M-N motif must be replaced by certain combinations ...

    Abstract The highly conserved G-M-N motif of the CorA-Mrs2-Alr1 family of Mg(2+) channels has been shown to be essential for Mg(2+) transport. We performed random mutagenesis of the G-M-N sequence of Saccharomyces cerevisiae Mrs2p in an unbiased genetic screen. A large number of mutants still capable of Mg(2+) influx, albeit below the wild-type level, were generated. Growth complementation assays, performed in media supplemented with Ca(2+) or Co(2+) or Mn(2+) or Zn(2+) at varying concentrations, lead to identification of mutants with reduced growth in the presence of Mn(2+) and Zn(2+). We hereby conclude that (1) at least two, but predominantly all three amino acids of the G-M-N motif must be replaced by certain combinations of other amino acids to remain functional, (2) replacement of any single amino acid within the G-M-N motif always impairs the function of Mrs2p, and (3) we show that the G-M-N motif determines ion selectivity, likely in concurrence with the negatively charged loop at the entrance of the channel thereby forming the Mrs2p selectivity filter.
    MeSH term(s) Calcium/metabolism ; Cobalt/metabolism ; Magnesium/metabolism ; Manganese/metabolism ; Saccharomyces cerevisiae/metabolism ; Saccharomyces cerevisiae Proteins/chemistry ; Saccharomyces cerevisiae Proteins/metabolism ; Substrate Specificity ; Zinc/metabolism
    Chemical Substances Saccharomyces cerevisiae Proteins ; Cobalt (3G0H8C9362) ; Manganese (42Z2K6ZL8P) ; Magnesium (I38ZP9992A) ; Zinc (J41CSQ7QDS) ; Calcium (SY7Q814VUP)
    Language English
    Publishing date 2013-06
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2474317-3
    ISSN 1756-591X ; 1756-5901
    ISSN (online) 1756-591X
    ISSN 1756-5901
    DOI 10.1039/c3mt20201a
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Development and evaluation of antibody-capture immunoassays for detection of Lassa virus nucleoprotein-specific immunoglobulin M and G.

    Gabriel, Martin / Adomeh, Donatus I / Ehimuan, Jacqueline / Oyakhilome, Jennifer / Omomoh, Emmanuel O / Ighodalo, Yemisi / Olokor, Thomas / Bonney, Kofi / Pahlmann, Meike / Emmerich, Petra / Lelke, Michaela / Brunotte, Linda / Ölschläger, Stephan / Thomé-Bolduan, Corinna / Becker-Ziaja, Beate / Busch, Carola / Odia, Ikponmwosa / Ogbaini-Emovon, Ephraim / Okokhere, Peter O /
    Okogbenin, Sylvanus A / Akpede, George O / Schmitz, Herbert / Asogun, Danny A / Günther, Stephan

    PLoS neglected tropical diseases

    2018  Volume 12, Issue 3, Page(s) e0006361

    Abstract: Background: The classical method for detection of Lassa virus-specific antibodies is the immunofluorescence assay (IFA) using virus-infected cells as antigen. However, IFA requires laboratories of biosafety level 4 for assay production and an ... ...

    Abstract Background: The classical method for detection of Lassa virus-specific antibodies is the immunofluorescence assay (IFA) using virus-infected cells as antigen. However, IFA requires laboratories of biosafety level 4 for assay production and an experienced investigator to interpret the fluorescence signals. Therefore, we aimed to establish and evaluate enzyme-linked immunosorbent assays (ELISA) using recombinant Lassa virus nucleoprotein (NP) as antigen.
    Methodology/principal findings: The IgM ELISA is based on capturing IgM antibodies using anti-IgM, and the IgG ELISA is based on capturing IgG antibody-antigen complexes using rheumatoid factor or Fc gamma receptor CD32a. Analytical and clinical evaluation was performed with 880 sera from Lassa fever endemic (Nigeria) and non-endemic (Ghana and Germany) areas. Using the IFA as reference method, we observed 91.5-94.3% analytical accuracy of the ELISAs in detecting Lassa virus-specific antibodies. Evaluation of the ELISAs for diagnosis of Lassa fever on admission to hospital in an endemic area revealed a clinical sensitivity for the stand-alone IgM ELISA of 31% (95% CI 25-37) and for combined IgM/IgG detection of 26% (95% CI 21-32) compared to RT-PCR. The specificity of IgM and IgG ELISA was estimated at 96% (95% CI 93-98) and 100% (95% CI 99-100), respectively, in non-Lassa fever patients from non-endemic areas. In patients who seroconverted during follow-up, Lassa virus-specific IgM and IgG developed simultaneously rather than sequentially. Consistent with this finding, isolated IgM reactivity, i.e. IgM in the absence of IgG, had no diagnostic value.
    Conclusions/significance: The ELISAs are not equivalent to RT-PCR for early diagnosis of Lassa fever; however, they are of value in diagnosing patients at later stage. The IgG ELISA may be useful for epidemiological studies and clinical trials due its high specificity, and the higher throughput rate and easier operation compared to IFA.
    MeSH term(s) Antibodies, Viral/blood ; Enzyme-Linked Immunosorbent Assay/methods ; Fluorescent Antibody Technique, Indirect ; Germany/epidemiology ; Ghana/epidemiology ; Humans ; Immunoglobulin G/blood ; Immunoglobulin M/blood ; Lassa Fever/diagnosis ; Lassa Fever/epidemiology ; Lassa Fever/immunology ; Lassa virus/immunology ; Lassa virus/isolation & purification ; Nigeria/epidemiology ; Nucleoproteins/genetics ; Nucleoproteins/immunology ; RNA, Viral/blood ; Sensitivity and Specificity
    Chemical Substances Antibodies, Viral ; Immunoglobulin G ; Immunoglobulin M ; Nucleoproteins ; RNA, Viral
    Language English
    Publishing date 2018
    Publishing country United States
    Document type Evaluation Studies ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2429704-5
    ISSN 1935-2735 ; 1935-2727
    ISSN (online) 1935-2735
    ISSN 1935-2727
    DOI 10.1371/journal.pntd.0006361
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Response to: "Letter to the Editor entitled: Unjustified extrapolation" [by authors: Supp G., Rosedale R., Werneke M.].

    Rabey, Martin / Smith, Anne / Beales, Darren / Slater, Helen / O'Sullivan, Peter

    Scandinavian journal of pain

    2017  Volume 16, Page(s) 191

    MeSH term(s) Humans ; Low Back Pain ; Movement ; Pain Threshold
    Language English
    Publishing date 2017-05-11
    Publishing country Germany
    Document type Letter ; Comment
    ZDB-ID 2515451-5
    ISSN 1877-8879 ; 1877-8860
    ISSN (online) 1877-8879
    ISSN 1877-8860
    DOI 10.1016/j.sjpain.2017.04.067
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  10. Article: m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening.

    Mori, Mari / Mytinger, John R / Martin, Lisa C / Bartholomew, Dennis / Hickey, Scott

    JIMD reports

    2014  Volume 17, Page(s) 47–51

    Abstract: ... m.8993T>G mutation in the ATPase 6 gene. His mother, who had previously been diagnosed ... with persistent hypocitrullinemia should include testing for the m.8993T>G mutation and other disorders that cause ... to heteroplasmy of the same mutation. She had progressive muscle weakness, ataxia, and speech dyspraxia. The m ...

    Abstract Citrulline is among the metabolites measured by expanded newborn screening (NBS). While hypocitrullinemia can be a marker for deficiency of proximal urea cycle enzymes such as ornithine transcarbamylase (OTC), only a handful of state newborn screening programs in the United States officially report a low citrulline value for further work-up due to low positive predictive value. We report a case of a male infant who was found to have hypocitrullinemia on NBS. After excluding proximal urea cycle disorders by DNA sequencing, his NBS result was felt to be a false positive. At 4 months of age, he developed poor feeding, failure to thrive, apnea and infantile spasms with a progression to intractable seizures, as well as persistent hypocitrullinemia. He was diagnosed with Leigh syndrome due to a maternally inherited homoplasmic m.8993T>G mutation in the ATPase 6 gene. His mother, who had previously been diagnosed with cerebral palsy, was concurrently diagnosed with neuropathy, ataxia, and retinitis pigmentosa (NARP) due to heteroplasmy of the same mutation. She had progressive muscle weakness, ataxia, and speech dyspraxia. The m.8993T>G mutation causes mitochondrial ATP synthase deficiency and it is hypothesized to undermine the synthesis of citrulline by CPS1. In addition to proximal urea cycle disorders, the evaluation of an infant with persistent hypocitrullinemia should include testing for the m.8993T>G mutation and other disorders that cause mitochondrial dysfunction.
    Language English
    Publishing date 2014-09-21
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2672872-2
    ISSN 2192-8312 ; 2192-8304
    ISSN (online) 2192-8312
    ISSN 2192-8304
    DOI 10.1007/8904_2014_332
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