| Property |
Value |
| Working Groups |
RG Wollnik |
| Subproject |
None |
| Open Access |
Yes |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| PMID |
38480682 |
| DOI |
10.1038/s41467-024-46354-0 |
| Publication Year |
2024 |
| Title |
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications |
| Journal |
Nature Communications |
| ISSN |
2041-1723 |
| eISSN |
2041-1723 |
| URL |
http://dx.doi.org/10.1038/s41467-024-46354-0 |
| Issue |
1 |
| Volume |
15 |
| Journal Abbreviation |
Nat Commun |
| Authors |
Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard A, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund AK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze J, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini J, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da’as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G, SYNaPS Study Group, Arnesen T, Houlden H |
| First Author |
Chelban V |
| Last Author |
Houlden H |
External Resources
nature.c...-0.pdfhttps://www.nature.com/articles/s41467-024-46354-0.pdf Article fulltext
2/142388https://publications.goettingen-research-online.de/handle/2/142388 GRO.publications identifier
10.6084/m9.figshare.4530893.v6https://doi.org/10.6084/m9.figshare.4530893.v6 Figshare DOI (DOI:10.6084/m9.figshare.4530893.v6, reused)
0000-0002-5817-6290https://orcid.org/0000-0002-5817-6290 ORCID identifier (Viorica Chelban)
0000-0003-4968-2324https://orcid.org/0000-0003-4968-2324 ORCID identifier (Henriette Aksnes)
0000-0001-6763-1542https://orcid.org/0000-0001-6763-1542 ORCID identifier (Reza Maroofian)
0000-0003-3625-4566https://orcid.org/0000-0003-3625-4566 ORCID identifier (Lauren C. LaMonica)
0000-0002-4678-3026https://orcid.org/0000-0002-4678-3026 ORCID identifier (Luis Seabra)
0000-0002-8273-8505https://orcid.org/0000-0002-8273-8505 ORCID identifier (Olivier Quenez)
0000-0003-1640-4010https://orcid.org/0000-0003-1640-4010 ORCID identifier (Rauan Kaiyrzhanov)
0000-0003-0132-7921https://orcid.org/0000-0003-0132-7921 ORCID identifier (Vincenzo Salpietro)
0000-0003-4900-9877https://orcid.org/0000-0003-4900-9877 ORCID identifier (Stephanie Efthymiou)
0000-0002-9047-0959https://orcid.org/0000-0002-9047-0959 ORCID identifier (Heba Morsy)
0000-0001-7334-0602https://orcid.org/0000-0001-7334-0602 ORCID identifier (Alistair T. Pagnamenta)
0000-0002-5312-6526https://orcid.org/0000-0002-5312-6526 ORCID identifier (Liv S. Krogstad)
0000-0002-2732-4043https://orcid.org/0000-0002-2732-4043 ORCID identifier (Andrés Moreno De Luca)
0000-0001-8789-5676https://orcid.org/0000-0001-8789-5676 ORCID identifier (Anne Boland-Auge)
0000-0002-5358-4463https://orcid.org/0000-0002-5358-4463 ORCID identifier (Jean-François Deleuze)
0000-0002-6719-3447https://orcid.org/0000-0002-6719-3447 ORCID identifier (Barbara Vona)
0000-0002-0501-479Xhttps://orcid.org/0000-0002-0501-479X ORCID identifier (Fahad Alajlan)
0000-0002-5884-9934https://orcid.org/0000-0002-5884-9934 ORCID identifier (Jean-Luc Battini)
0000-0003-2324-8001https://orcid.org/0000-0003-2324-8001 ORCID identifier (Hanns Lochmüller)
0000-0003-3438-5028https://orcid.org/0000-0003-3438-5028 ORCID identifier (Sahar I. Da’as)
0000-0002-3150-1276https://orcid.org/0000-0002-3150-1276 ORCID identifier (Khalid A. Fakhro)
0000-0003-2348-9083https://orcid.org/0000-0003-2348-9083 ORCID identifier (Alicia Gómez-Pascual)
0000-0002-6992-598Xhttps://orcid.org/0000-0002-6992-598X ORCID identifier (Juan A. Botía)
0000-0002-9500-3348https://orcid.org/0000-0002-9500-3348 ORCID identifier (Nicholas W. Wood)
0000-0002-9841-170Xhttps://orcid.org/0000-0002-9841-170X ORCID identifier (Rita Horvath)
0000-0001-7359-7184https://orcid.org/0000-0001-7359-7184 ORCID identifier (Andreas M. Ernst)
0000-0001-7211-7564https://orcid.org/0000-0001-7211-7564 ORCID identifier (Yanick J. Crow)
0000-0003-4158-341Xhttps://orcid.org/0000-0003-4158-341X ORCID identifier (Fowzan S. Alkuraya)
0000-0001-9391-7800https://orcid.org/0000-0001-9391-7800 ORCID identifier (Gaël Nicolas)
0000-0002-3005-147Xhttps://orcid.org/0000-0002-3005-147X ORCID identifier (Thomas Arnesen)
0000-0002-2866-7777https://orcid.org/0000-0002-2866-7777 ORCID identifier (Henry Houlden)
1/421https://mbexc.uni-goettingen.de/archive/1/421 Research Data Archive (supplemental material)
00mzz1w90https://ror.org/00mzz1w90 ROR identifier (00mzz1w90, Alexandria University)
00cdrtq48https://ror.org/00cdrtq48 ROR identifier (00cdrtq48, Alfaisal University)
00sq30w29https://ror.org/00sq30w29 ROR identifier (00sq30w29, Autism & Developmental Medicine Institute)
03ccx3r49https://ror.org/03ccx3r49 ROR identifier (03ccx3r49, Centogene (Germany))
0257dtg16https://ror.org/0257dtg16 ROR identifier (0257dtg16, Dicle University)
00dbd8b73https://ror.org/00dbd8b73 ROR identifier (00dbd8b73, Dokuz Eylül University)
03eyq4y97https://ror.org/03eyq4y97 ROR identifier (03eyq4y97, Hamad bin Khalifa University)
03np4e098https://ror.org/03np4e098 ROR identifier (03np4e098, Haukeland University Hospital)
01502ca60https://ror.org/01502ca60 ROR identifier (01502ca60, Hospices Civils de Lyon)
014nx0w70https://ror.org/014nx0w70 ROR identifier (014nx0w70, Hospital Universitario Austral)
04asck240https://ror.org/04asck240 ROR identifier (04asck240, Inonu University)
02vjkv261https://ror.org/02vjkv261 ROR identifier (02vjkv261, Inserm)
05n0wgt02https://ror.org/05n0wgt02 ROR identifier (05n0wgt02, King Faisal Specialist Hospital & Research Centre)
05xy1nn52https://ror.org/05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)
048b34d51https://ror.org/048b34d51 ROR identifier (048b34d51, National Hospital for Neurology and Neurosurgery)
03xww6m08https://ror.org/03xww6m08 ROR identifier (03xww6m08, Nicolae Testemițanu State University of Medicine and Pharmacy)
03c62dg59https://ror.org/03c62dg59 ROR identifier (03c62dg59, Ottawa Hospital)
03acdk243https://ror.org/03acdk243 ROR identifier (03acdk243, Sidra Medical and Research Center)
025hwk980https://ror.org/025hwk980 ROR identifier (025hwk980, South Kazakhstan Medical Academy)
039zedc16https://ror.org/039zedc16 ROR identifier (039zedc16, St George’s University Hospitals NHS Foundation Trust)
03p3aeb86https://ror.org/03p3aeb86 ROR identifier (03p3aeb86, Universidad de Murcia)
03nhjew95https://ror.org/03nhjew95 ROR identifier (03nhjew95, Université de Rouen Normandie)
05f82e368https://ror.org/05f82e368 ROR identifier (05f82e368, Université Paris Cité)
02jx3x895https://ror.org/02jx3x895 ROR identifier (02jx3x895, University College London)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
03zga2b32https://ror.org/03zga2b32 ROR identifier (03zga2b32, University of Bergen)
0168r3w48https://ror.org/0168r3w48 ROR identifier (0168r3w48, University of California, San Diego)
013meh722https://ror.org/013meh722 ROR identifier (013meh722, University of Cambridge)
0245cg223https://ror.org/0245cg223 ROR identifier (0245cg223, University of Freiburg)
051escj72https://ror.org/051escj72 ROR identifier (051escj72, University of Montpellier)
03c4mmv16https://ror.org/03c4mmv16 ROR identifier (03c4mmv16, University of Ottawa)
03xjwb503https://ror.org/03xjwb503 ROR identifier (03xjwb503, University of Paris-Saclay)
00pg6eq24https://ror.org/00pg6eq24 ROR identifier (00pg6eq24, University of Strasbourg)
01rjnta51https://ror.org/01rjnta51 ROR identifier (01rjnta51, Wellcome Centre for Human Genetics)
03v76x132https://ror.org/03v76x132 ROR identifier (03v76x132, Yale University)
SCR_012821https://scicrunch.org/resolver/SCR_012821 SciCrunch identifier (RRID:SCR_012821, ANNOVAR)
SCR_003032https://scicrunch.org/resolver/SCR_003032 SciCrunch identifier (RRID:SCR_003032, Cytoscape)
static-c...SM.pdfhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41467-024-46354-0/MediaObjects/41467_2024_46354_MOESM1_ESM.pdf Supplemental material
static-c...SM.pdfhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41467-024-46354-0/MediaObjects/41467_2024_46354_MOESM3_ESM.pdf Supplemental material
goeseek.gwdguser.de/studies/158https://goeseek.gwdguser.de/studies/158 Supplemental material (goeseek study)
static-c...SM.pdfhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41467-024-46354-0/MediaObjects/41467_2024_46354_MOESM2_ESM.pdf Supplemental material (peer review)
static-c...SM.pdfhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41467-024-46354-0/MediaObjects/41467_2024_46354_MOESM7_ESM.pdf Supplemental material (reporting summary)
static-c...SM.pdfhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41467-024-46354-0/MediaObjects/41467_2024_46354_MOESM8_ESM.pdf Supplemental material (reporting summary old)
static-c...M.xlsxhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41467-024-46354-0/MediaObjects/41467_2024_46354_MOESM9_ESM.xlsx Supplemental material (source data)
static-c...M.xlsxhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41467-024-46354-0/MediaObjects/41467_2024_46354_MOESM4_ESM.xlsx Supplemental material (table)
static-c...SM.mp4https://static-content.springer.com/esm/art%3A10.1038%2Fs41467-024-46354-0/MediaObjects/41467_2024_46354_MOESM5_ESM.mp4 Supplemental material (video)
static-c...SM.avihttps://static-content.springer.com/esm/art%3A10.1038%2Fs41467-024-46354-0/MediaObjects/41467_2024_46354_MOESM6_ESM.avi Supplemental material (video)
mbexc.de...tions/https://mbexc.de/biallelic-naa60-variants-with-impaired-n-terminal-acetylation-capacity-cause-autosomal-recessive-primary-familial-brain-calcifications/ Website entry (mbexc.de)