Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.

Acetylation Cells, Cultured Child Haploinsufficiency Heart Defects, Congenital / genetics Humans Induced Pluripotent Stem Cells / metabolism Mutation, Missense N-Terminal Acetyltransferase A / genetics N-Terminal Acetyltransferase E / genetics Protein Processing, Post-Translational Proteome / metabolism
congenital heart defects haploinsufficiency induced pluripotent stem cells proteins proteomics ribosomes

Journal

Circulation research
ISSN: 1524-4571
Titre abrégé: Circ Res
Pays: United States
ID NLM: 0047103

Informations de publication

Date de publication:
16 04 2021
Historique:
pubmed: 10 2 2021
medline: 8 1 2022
entrez: 9 2 2021
Statut: ppublish

Résumé

[Figure: see text].

Identifiants

DOI: 10.1161/CIRCRESAHA.120.316966 PMID: 33557580 PMC: PMC8048381
pubmed: 33557580
doi: 10.1161/CIRCRESAHA.120.316966
pmc: PMC8048381
mid: NIHMS1673615
doi:

Substances chimiques

NAA15 protein, human 0
Proteome 0
N-Terminal Acetyltransferase A EC 2.3.1.254
N-Terminal Acetyltransferase E EC 2.3.1.258

Types de publication

Clinical Trial Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1156-1169

Subventions

Organisme : NHLBI NIH HHS
ID : R01 HL151257
Pays : United States
Organisme : NHLBI NIH HHS
ID : UM1 HL098123
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001863
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL098162
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL153009
Pays : United States
Organisme : NHLBI NIH HHS
ID : T32 HL007208
Pays : United States
Organisme : NHLBI NIH HHS
ID : UM1 HL098166
Pays : United States
Organisme : NHLBI NIH HHS
ID : K08 HL150284
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL098147
Pays : United States
Organisme : Howard Hughes Medical Institute
Pays : United States
Organisme : NHLBI NIH HHS
ID : UM1 HL098179
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL098153
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL131003
Pays : United States

Commentaires et corrections

Type : CommentIn

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Auteurs

Tarsha Ward (T)

Genetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.

Warren Tai (W)

Genetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.

Sarah Morton (S)

Genetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.
Division of Newborn Medicine, Boston Children's Hospital (S.M.).

Francis Impens (F)

VIB Center for Medical Biotechnology, B-9000 Ghent, Belgium (F.I., D.V.H., E.T., K.G.).
VIB Proteomics Core, B-9000 Ghent, Belgium (F.I., D.V.H., E.T.).
Biomolecular Medicine (F.I., D.V.H., E.T., K.G.), Ghent University, B-9000 Ghent, Belgium.

Petra Van Damme (P)

Biochemistry and Microbiology (P.V.D.), Ghent University, B-9000 Ghent, Belgium.

Delphi Van Haver (D)

VIB Center for Medical Biotechnology, B-9000 Ghent, Belgium (F.I., D.V.H., E.T., K.G.).
VIB Proteomics Core, B-9000 Ghent, Belgium (F.I., D.V.H., E.T.).
Biomolecular Medicine (F.I., D.V.H., E.T., K.G.), Ghent University, B-9000 Ghent, Belgium.

Evy Timmerman (E)

VIB Center for Medical Biotechnology, B-9000 Ghent, Belgium (F.I., D.V.H., E.T., K.G.).
VIB Proteomics Core, B-9000 Ghent, Belgium (F.I., D.V.H., E.T.).
Biomolecular Medicine (F.I., D.V.H., E.T., K.G.), Ghent University, B-9000 Ghent, Belgium.

Gabriela Venturini (G)

Genetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.
University of Sao Paulo (G.V.).

Kehan Zhang (K)

Biomedical Engineering, Boston University, MA (K.Z., C.S.C.).
The Wyss Institute for Biologically Inspired Engineering at Harvard University, Boston, MA (K.Z., C.S.C.).

Min Young Jang (MY)

Genetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.

Jon A L Willcox (JAL)

Genetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.

Alireza Haghighi (A)

Genetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.
Howard Hughes Medical Institute (A.H., C.S.), Harvard Medical School.
Medicine, Brigham and Women's Hospital (A.H., C.S.).

Bruce D Gelb (BD)

Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York (B.D.G.).

Wendy K Chung (WK)

Pediatrics and Medicine, Columbia University Medical Center, New York (W.K.C.).

Elizabeth Goldmuntz (E)

Cardiology, Children's Hospital of Philadelphia, Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia (E.G.).

George A Porter (GA)

Pediatrics, University of Rochester Medical Center (G.A.P.).

Richard P Lifton (RP)

Genetics, Yale University School of Medicine, New Haven (R.P.L., M.B.).
Laboratory of Human Genetics and Genomics, Rockefeller University, New York (R.P.L.).

Martina Brueckner (M)

Genetics, Yale University School of Medicine, New Haven (R.P.L., M.B.).
Pediatrics, Yale University School of Medicine, New Haven (M.B.).

H Joseph Yost (HJ)

Molecular Medicine Program, University of Utah, Salt Lake City (H.J.Y.).

Benoit G Bruneau (BG)

Gladstone Institutes, San Francisco, CA (B.G.B.).

Joshua Gorham (J)

Genetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.

Yuri Kim (Y)

Genetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.
Division of Cardiovascular Medicine, Brigham and Women's Hospital (Y.K.).

Alexandre Pereira (A)

Genetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.

Jason Homsy (J)

Genetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.

Craig C Benson (CC)

Genetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.

Steven R DePalma (SR)

Genetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.

Sylvia Varland (S)

Biomedicine (S.V., T.A.), University of Bergen, N-5020 Bergen, Norway.
Biological Sciences (S.V., T.A.), University of Bergen, N-5020 Bergen, Norway.
Donnelly Centre for Cellular and Biomolecular Research, Toronto, Canada (S.V.).

Christopher S Chen (CS)

Biomedical Engineering, Boston University, MA (K.Z., C.S.C.).
The Wyss Institute for Biologically Inspired Engineering at Harvard University, Boston, MA (K.Z., C.S.C.).

Thomas Arnesen (T)

Biomedicine (S.V., T.A.), University of Bergen, N-5020 Bergen, Norway.
Biological Sciences (S.V., T.A.), University of Bergen, N-5020 Bergen, Norway.
Surgery, Haukeland University Hospital, N-5021 Bergen, Norway (T.A.).

Kris Gevaert (K)

Biomolecular Medicine (F.I., D.V.H., E.T., K.G.), Ghent University, B-9000 Ghent, Belgium.

Christine Seidman (C)

Genetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.
Howard Hughes Medical Institute (A.H., C.S.), Harvard Medical School.
Medicine, Brigham and Women's Hospital (A.H., C.S.).

J G Seidman (JG)

Genetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.

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Classifications MeSH

questionsmedicales.fr › Métabolisme › Acylation › Acétylation › Mechanisms of Congenital Heart Disease Caused...
questionsmedicales.fr › Cellules › Cellules cultivées › Mechanisms of Congenital Heart Disease Caused...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Mechanisms of Congenital Heart Disease Caused...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Dosage génique › Haploinsuffisance › Mechanisms of Congenital Heart Disease Caused...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations cardiovasculaires › Cardiopathies congénitales › Mechanisms of Congenital Heart Disease Caused...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Mechanisms of Congenital Heart Disease Caused...
questionsmedicales.fr › Cellules › Cellules souches › Cellules souches pluripotentes › Cellules souches pluripotentes induites › Mechanisms of Congenital Heart Disease Caused...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › Mechanisms of Congenital Heart Disease Caused...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Transferases › Acyltransferases › Acetyltransferases › N-terminal acetyltransferases › N-terminal acetyltransferase A › Mechanisms of Congenital Heart Disease Caused...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Transferases › Acyltransferases › Acetyltransferases › N-terminal acetyltransferases › N-terminal acetyltransferase E › Mechanisms of Congenital Heart Disease Caused...
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Modification traductionnelle des protéines › Maturation post-traductionnelle des protéines › Mechanisms of Congenital Heart Disease Caused...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéome › Mechanisms of Congenital Heart Disease Caused...