| Property |
Value |
| Working Groups |
RG Wollnik |
| Subproject |
None |
| Open Access |
Yes |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| PMID |
37951597 |
| DOI |
10.1093/brain/awad380 |
| Publication Year |
2023 |
| Title |
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders |
| Journal |
Brain |
| ISSN |
0006-8950 |
| eISSN |
1460-2156 |
| URL |
http://dx.doi.org/10.1093/brain/awad380 |
| Journal Abbreviation |
Brain |
| Authors |
Kaiyrzhanov R, Rad A, Lin S, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Ghayoor Karimiani E, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Akay Tayfun G, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Bahrami Monajemi G, Mohammadi P, Samie S, Banu SH, Basto JP, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Hameed Issa A, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R |
| First Author |
Kaiyrzhanov R |
| Last Author |
Maroofian R |
External Resources
academic...80.pdfhttps://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad380/53267938/awad380.pdf Article fulltext
2/139138https://publications.goettingen-research-online.de/handle/2/139138 GRO.publications identifier
NP_082526.2https://www.ncbi.nlm.nih.gov/protein/NP_082526.2 NCBI protein identifier (NP_082526.2, reused)
NP_115736.1https://www.ncbi.nlm.nih.gov/protein/NP_115736.1 NCBI protein identifier (NP_115736.1, reused)
NP_001020626.1https://www.ncbi.nlm.nih.gov/protein/NP_001020626.1 NCBI protein identifier (NP_001020626.1, reused)
NP_001089443.1https://www.ncbi.nlm.nih.gov/protein/NP_001089443.1 NCBI protein identifier (NP_001089443.1, reused)
NP_001264476.1https://www.ncbi.nlm.nih.gov/protein/NP_001264476.1 NCBI protein identifier (NP_001264476.1, reused)
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606 NCBI taxonomy (human, Homo sapiens)
10090https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=10090 NCBI taxonomy (mouse, Mus musculus)
8364https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=8364 NCBI taxonomy (tropical clawed frog, Xenopus tropicalis)
7955https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=7955 NCBI taxonomy (zebrafish, Danio rerio)
0000-0003-1640-4010https://orcid.org/0000-0003-1640-4010 ORCID identifier (Rauan Kaiyrzhanov)
0000-0002-7559-6529https://orcid.org/0000-0002-7559-6529 ORCID identifier (Sheng-Jia Lin)
0000-0003-4900-9877https://orcid.org/0000-0003-4900-9877 ORCID identifier (Stephanie Efthymiou)
0000-0001-8332-0672https://orcid.org/0000-0001-8332-0672 ORCID identifier (Sabine Rudnik-Schöneborn)
0000-0002-1856-0589https://orcid.org/0000-0002-1856-0589 ORCID identifier (Vorasuk Shotelersuk)
0000-0001-8860-7904https://orcid.org/0000-0001-8860-7904 ORCID identifier (Patra Yeetong)
0000-0003-2437-7526https://orcid.org/0000-0003-2437-7526 ORCID identifier (Annalisa Vetro)
0000-0003-0151-6482https://orcid.org/0000-0003-0151-6482 ORCID identifier (Yalda Jamshidi)
0000-0002-6719-3447https://orcid.org/0000-0002-6719-3447 ORCID identifier (Barbara Vona)
0000-0003-4730-5322https://orcid.org/0000-0003-4730-5322 ORCID identifier (Mariasavina Severino)
0000-0002-0429-1904https://orcid.org/0000-0002-0429-1904 ORCID identifier (Gaurav K. Varshney)
0000-0002-2866-7777https://orcid.org/0000-0002-2866-7777 ORCID identifier (Henry Houlden)
0000-0001-6763-1542https://orcid.org/0000-0001-6763-1542 ORCID identifier (Reza Maroofian)
1/279https://mbexc.uni-goettingen.de/archive/1/279 Research Data Archive (supplemental material)
02pttbw34https://ror.org/02pttbw34 ROR identifier (02pttbw34, Baylor College of Medicine)
01yvj7247https://ror.org/01yvj7247 ROR identifier (01yvj7247, Bnai Zion Medical Center)
01q9r1072https://ror.org/01q9r1072 ROR identifier (01q9r1072, Boys Town National Research Hospital)
03ccx3r49https://ror.org/03ccx3r49 ROR identifier (03ccx3r49, Centogene (Germany))
020sr6z07https://ror.org/020sr6z07 ROR identifier (020sr6z07, Centro Hospitalar Lisboa Norte)
028wp3y58https://ror.org/028wp3y58 ROR identifier (028wp3y58, Chulalongkorn University)
04zjvnp94https://ror.org/04zjvnp94 ROR identifier (04zjvnp94, Clalit Health Services)
01esghr10https://ror.org/01esghr10 ROR identifier (01esghr10, Columbia University Irving Medical Center)
018y22094https://ror.org/018y22094 ROR identifier (018y22094, Hazara University)
041kmwe10https://ror.org/041kmwe10 ROR identifier (041kmwe10, Imperial College London)
03pt86f80https://ror.org/03pt86f80 ROR identifier (03pt86f80, Innsbruck Medical University)
0424g0k78https://ror.org/0424g0k78 ROR identifier (0424g0k78, Istituto Giannina Gaslini)
01jgj2p89https://ror.org/01jgj2p89 ROR identifier (01jgj2p89, King Fahd Medical City)
0149jvn88https://ror.org/0149jvn88 ROR identifier (0149jvn88, King Saud bin Abdulaziz University for Health Sciences)
02kswqa67https://ror.org/02kswqa67 ROR identifier (02kswqa67, Marmara University)
04sfka033https://ror.org/04sfka033 ROR identifier (04sfka033, Mashhad University of Medical Sciences)
01n2xwm51https://ror.org/01n2xwm51 ROR identifier (01n2xwm51, Meyer Children's Hospital)
048d1b238https://ror.org/048d1b238 ROR identifier (048d1b238, Miami Children's Hospital)
05xy1nn52https://ror.org/05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)
02n85j827https://ror.org/02n85j827 ROR identifier (02n85j827, National Research Centre)
01kj2bm70https://ror.org/01kj2bm70 ROR identifier (01kj2bm70, Newcastle University)
02w91w637https://ror.org/02w91w637 ROR identifier (02w91w637, Newcastle upon Tyne Hospital)
0536t7y80https://ror.org/0536t7y80 ROR identifier (0536t7y80, North Khorasan University of Medical Sciences)
05wg1m734https://ror.org/05wg1m734 ROR identifier (05wg1m734, Radboud University Nijmegen Medical Centre)
00414dg76https://ror.org/00414dg76 ROR identifier (00414dg76, Rady Children's Hospital-San Diego)
05tgdvt16https://ror.org/05tgdvt16 ROR identifier (05tgdvt16, Sabzevar University of Medical Sciences)
040f08y74https://ror.org/040f08y74 ROR identifier (040f08y74, St George's, University of London)
02kkvpp62https://ror.org/02kkvpp62 ROR identifier (02kkvpp62, Technical University of Munich)
02emvsg33https://ror.org/02emvsg33 ROR identifier (02emvsg33, Tajik State Medical University)
03mwgfy56https://ror.org/03mwgfy56 ROR identifier (03mwgfy56, Tarbiat Modares University)
03qryx823https://ror.org/03qryx823 ROR identifier (03qryx823, Technion – Israel Institute of Technology)
01c4pz451https://ror.org/01c4pz451 ROR identifier (01c4pz451, Tehran University of Medical Sciences)
05cz92x43https://ror.org/05cz92x43 ROR identifier (05cz92x43, Texas Children's Hospital)
04tnbqb63https://ror.org/04tnbqb63 ROR identifier (04tnbqb63, The Francis Crick Institute)
00ey54k21https://ror.org/00ey54k21 ROR identifier (00ey54k21, Universidade de Ribeirão Preto)
01zgy1s35https://ror.org/01zgy1s35 ROR identifier (01zgy1s35, University Medical Center Hamburg-Eppendorf)
02jx3x895https://ror.org/02jx3x895 ROR identifier (02jx3x895, University College London)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
04dkp9463https://ror.org/04dkp9463 ROR identifier (04dkp9463, University of Amsterdam)
00840ea57https://ror.org/00840ea57 ROR identifier (00840ea57, University of Basrah)
03rmrcq20https://ror.org/03rmrcq20 ROR identifier (03rmrcq20, University of British Columbia)
0168r3w48https://ror.org/0168r3w48 ROR identifier (0168r3w48, University of California, San Diego)
03yghzc09https://ror.org/03yghzc09 ROR identifier (03yghzc09, University of Exeter)
04jr1s763https://ror.org/04jr1s763 ROR identifier (04jr1s763, University of Florence)
0245cg223https://ror.org/0245cg223 ROR identifier (0245cg223, University of Freiburg)
044pcn091https://ror.org/044pcn091 ROR identifier (044pcn091, University of Mississippi Medical Center)
01ee9ar58https://ror.org/01ee9ar58 ROR identifier (01ee9ar58, University of Nottingham)
03ykbk197https://ror.org/03ykbk197 ROR identifier (03ykbk197, University of Portsmouth)
03a1kwz48https://ror.org/03a1kwz48 ROR identifier (03a1kwz48, University of Tübingen)
04pp8hn57https://ror.org/04pp8hn57 ROR identifier (04pp8hn57, Utrecht University)
CVCL_0224https://scicrunch.org/resolver/CVCL_0224 SciCrunch identifier (RRID:CVCL_0224, COS-7)
SCR_002798https://scicrunch.org/resolver/SCR_002798 SciCrunch identifier (RRID:SCR_002798, GraphPad Prism)
SCR_003411https://scicrunch.org/resolver/SCR_003411 SciCrunch identifier (RRID:SCR_003411, PRIDE)
SCR_003139https://scicrunch.org/resolver/SCR_003139 SciCrunch identifier (RRID:SCR_003139, Primer3)
SCR_018063https://scicrunch.org/resolver/SCR_018063 SciCrunch identifier (RRID:SCR_018063, Zeiss LSM 710 Confocal Inverted Microscope)
UP000000437https://www.uniprot.org/proteomes/UP000000437 UniProt proteome identifier (UP000000437, reused)
UP000008143https://www.uniprot.org/proteomes/UP000008143 UniProt Proteome identifier (UP000008143, reused)
goeseek.gwdguser.de/studies/166https://goeseek.gwdguser.de/studies/166 Supplemental material (goeseek study)
mbexc.de...rders/https://mbexc.de/bi-allelic-acbd6-variants-lead-to-a-neurodevelopmental-syndrome-with-progressive-and-complex-movement-disorders/ Website entry (mbexc.de)
Linked Antibodies
| PID |
AG |
Type |
Antigen symbol |
Antibody Registry ID |
Name |
| primary-1265 |
|
primary |
ATPB |
AB_301438 |
ATPB |
| primary-1266 |
|
primary |
|
|
Oxidative Stress Defense (Catalase, SOD1, TRX, smooth muscle Actin) Western Blot Cocktail |