Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy
Coenzyme A (CoA) is an essential metabolic cofactor used by around 4% of cellular enzymes. Its role is to carry and transfer acetyl and acyl groups to other molecules. Cells can synthesize CoA de novo from vitamin B5 (pantothenate) through five consecutive enzymatic steps. Phosphopantothenoylcystein...
Gespeichert in:
| Hauptverfasser: | , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
May 10, 2018
|
| In: |
The American journal of human genetics
Year: 2018, Jahrgang: 102, Heft: 6, Pages: 1018-1030 |
| ISSN: | 1537-6605 |
| DOI: | 10.1016/j.ajhg.2018.03.022 |
| Online-Zugang: | Verlag, Volltext: https://doi.org/10.1016/j.ajhg.2018.03.022 Verlag, Volltext: http://www.sciencedirect.com/science/article/pii/S0002929718301113 
|
| Verfasserangaben: | Arcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, Ben Pode-Shakked, Dina Marek-Yagel, Mathias Grigat, Thomas Schwarzmayr, Riccardo Berutti, Bader Alhaddad, Bart Kanon, Nicola A. Grzeschik, Jürgen G. Okun, Zeev Perles, Yishay Salem, Ortal Barel, Amir Vardi, Marina Rubinshtein, Tal Tirosh, Gal Dubnov-Raz, Ana C. Messias, Caterina Terrile, Iris Barshack, Alex Volkov, Camilla Avivi, Eran Eyal, Elisa Mastantuono, Muhamad Kumbar, Shachar Abudi, Matthias Braunisch, Tim M. Strom, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch, Tobias B. Haack, Bianca J.J.M. Brundel, Dorothea Haas, Ody C.M. Sibon, Yair Anikster |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 169038378X | ||
| 003 | DE-627 | ||
| 005 | 20220817234158.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 200219s2018 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.ajhg.2018.03.022 |2 doi | |
| 035 | |a (DE-627)169038378X | ||
| 035 | |a (DE-599)KXP169038378X | ||
| 035 | |a (OCoLC)1341307430 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Iuso, Arcangela |e VerfasserIn |0 (DE-588)1205041842 |0 (DE-627)169038039X |4 aut | |
| 245 | 1 | 0 | |a Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy |c Arcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, Ben Pode-Shakked, Dina Marek-Yagel, Mathias Grigat, Thomas Schwarzmayr, Riccardo Berutti, Bader Alhaddad, Bart Kanon, Nicola A. Grzeschik, Jürgen G. Okun, Zeev Perles, Yishay Salem, Ortal Barel, Amir Vardi, Marina Rubinshtein, Tal Tirosh, Gal Dubnov-Raz, Ana C. Messias, Caterina Terrile, Iris Barshack, Alex Volkov, Camilla Avivi, Eran Eyal, Elisa Mastantuono, Muhamad Kumbar, Shachar Abudi, Matthias Braunisch, Tim M. Strom, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch, Tobias B. Haack, Bianca J.J.M. Brundel, Dorothea Haas, Ody C.M. Sibon, Yair Anikster |
| 264 | 1 | |c May 10, 2018 | |
| 300 | |a 13 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 19.02.2020 | ||
| 520 | |a Coenzyme A (CoA) is an essential metabolic cofactor used by around 4% of cellular enzymes. Its role is to carry and transfer acetyl and acyl groups to other molecules. Cells can synthesize CoA de novo from vitamin B5 (pantothenate) through five consecutive enzymatic steps. Phosphopantothenoylcysteine synthetase (PPCS) catalyzes the second step of the pathway during which phosphopantothenate reacts with ATP and cysteine to form phosphopantothenoylcysteine. Inborn errors of CoA biosynthesis have been implicated in neurodegeneration with brain iron accumulation (NBIA), a group of rare neurological disorders characterized by accumulation of iron in the basal ganglia and progressive neurodegeneration. Exome sequencing in five individuals from two unrelated families presenting with dilated cardiomyopathy revealed biallelic mutations in PPCS, linking CoA synthesis with a cardiac phenotype. Studies in yeast and fruit flies confirmed the pathogenicity of identified mutations. Biochemical analysis revealed a decrease in CoA levels in fibroblasts of all affected individuals. CoA biosynthesis can occur with pantethine as a source independent from PPCS, suggesting pantethine as targeted treatment for the affected individuals still alive. | ||
| 650 | 4 | |a coenzyme A | |
| 650 | 4 | |a dilated cardiomyopathy | |
| 650 | 4 | |a pantethine treatment | |
| 650 | 4 | |a pentothenate | |
| 650 | 4 | |a phospohopantothenoylcysteine synthetase | |
| 700 | 1 | |a Okun, Jürgen G. |d 1968- |e VerfasserIn |0 (DE-588)121578232 |0 (DE-627)705551415 |0 (DE-576)292781296 |4 aut | |
| 700 | 1 | |a Hoffmann, Georg F. |d 1957- |e VerfasserIn |0 (DE-588)115652868 |0 (DE-627)077386116 |0 (DE-576)261230042 |4 aut | |
| 700 | 1 | |a Haas, Dorothea |d 1965- |e VerfasserIn |0 (DE-588)1038104505 |0 (DE-627)756671280 |0 (DE-576)392125196 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t The American journal of human genetics |d New York, NY [u.a.] : Cell Press, 1949 |g 102(2018), 6, Seite 1018-1030 |w (DE-627)269019014 |w (DE-600)1473813-2 |w (DE-576)077662636 |x 1537-6605 |7 nnas |a Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy |
| 773 | 1 | 8 | |g volume:102 |g year:2018 |g number:6 |g pages:1018-1030 |g extent:13 |a Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy |
| 856 | 4 | 0 | |u https://doi.org/10.1016/j.ajhg.2018.03.022 |x Verlag |x Resolving-System |3 Volltext |
| 856 | 4 | 0 | |u http://www.sciencedirect.com/science/article/pii/S0002929718301113 |x Verlag |x Resolving-System |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20200219 | ||
| 993 | |a Article | ||
| 994 | |a 2018 | ||
| 998 | |g 1038104505 |a Haas, Dorothea |m 1038104505:Haas, Dorothea |d 910000 |d 910500 |e 910000PH1038104505 |e 910500PH1038104505 |k 0/910000/ |k 1/910000/910500/ |p 36 | ||
| 998 | |g 115652868 |a Hoffmann, Georg F. |m 115652868:Hoffmann, Georg F. |d 910000 |d 910500 |e 910000PH115652868 |e 910500PH115652868 |k 0/910000/ |k 1/910000/910500/ |p 32 | ||
| 998 | |g 121578232 |a Okun, Jürgen G. |m 121578232:Okun, Jürgen G. |d 910000 |d 910500 |e 910000PO121578232 |e 910500PO121578232 |k 0/910000/ |k 1/910000/910500/ |p 12 | ||
| 999 | |a KXP-PPN169038378X |e 3596842212 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"recId":"169038378X","language":["eng"],"note":["Gesehen am 19.02.2020"],"origin":[{"dateIssuedDisp":"May 10, 2018","dateIssuedKey":"2018"}],"name":{"displayForm":["Arcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, Ben Pode-Shakked, Dina Marek-Yagel, Mathias Grigat, Thomas Schwarzmayr, Riccardo Berutti, Bader Alhaddad, Bart Kanon, Nicola A. Grzeschik, Jürgen G. Okun, Zeev Perles, Yishay Salem, Ortal Barel, Amir Vardi, Marina Rubinshtein, Tal Tirosh, Gal Dubnov-Raz, Ana C. Messias, Caterina Terrile, Iris Barshack, Alex Volkov, Camilla Avivi, Eran Eyal, Elisa Mastantuono, Muhamad Kumbar, Shachar Abudi, Matthias Braunisch, Tim M. Strom, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch, Tobias B. Haack, Bianca J.J.M. Brundel, Dorothea Haas, Ody C.M. Sibon, Yair Anikster"]},"person":[{"role":"aut","given":"Arcangela","family":"Iuso","display":"Iuso, Arcangela"},{"role":"aut","given":"Jürgen G.","family":"Okun","display":"Okun, Jürgen G."},{"given":"Georg F.","role":"aut","display":"Hoffmann, Georg F.","family":"Hoffmann"},{"role":"aut","given":"Dorothea","family":"Haas","display":"Haas, Dorothea"}],"id":{"doi":["10.1016/j.ajhg.2018.03.022"],"eki":["169038378X"]},"type":{"media":"Online-Ressource","bibl":"article-journal"},"relHost":[{"corporate":[{"display":"American Society of Human Genetics","role":"isb"}],"id":{"eki":["269019014"],"issn":["1537-6605"],"zdb":["1473813-2"]},"title":[{"title":"The American journal of human genetics","title_sort":"American journal of human genetics"}],"type":{"bibl":"periodical","media":"Online-Ressource"},"part":{"pages":"1018-1030","issue":"6","extent":"13","volume":"102","text":"102(2018), 6, Seite 1018-1030","year":"2018"},"disp":"Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathyThe American journal of human genetics","pubHistory":["1.1949 -"],"name":{"displayForm":["American Society of Human Genetics"]},"language":["eng"],"recId":"269019014","note":["Gesehen am 28.05.2020"],"origin":[{"publisherPlace":"New York, NY [u.a.] ; New York, NY ; Chicago, Ill.","publisher":"Cell Press ; Elsevier ; Univ. of Chicago Press","dateIssuedDisp":"1949-","dateIssuedKey":"1949"}]}],"title":[{"title_sort":"Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy","title":"Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy"}],"physDesc":[{"extent":"13 S."}]} | ||
| SRT | |a IUSOARCANGMUTATIONSI1020 | ||