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Publication
PropertyValue
Working Groups RG Wollnik
SubprojectNone
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 37951597
DOIDOI 10.1093/brain/awad380
Publication Year2023
TitleBi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
JournalBrain
ISSN0006-8950
eISSN1460-2156
URL http://dx.doi.org/10.1093/brain/awad380
Journal AbbreviationBrain
AuthorsKaiyrzhanov 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 AuthorKaiyrzhanov R
Last AuthorMaroofian R

 External Resources

 academic...80.pdf  Article fulltext

 gro-2/139138  GRO.publications identifier

 NP_082526.2  NCBI protein identifier (NP_082526.2, reused)

 NP_115736.1  NCBI protein identifier (NP_115736.1, reused)

 NP_001020626.1  NCBI protein identifier (NP_001020626.1, reused)

 NP_001089443.1  NCBI protein identifier (NP_001089443.1, reused)

 NP_001264476.1  NCBI protein identifier (NP_001264476.1, reused)

 9606  NCBI taxonomy (human, Homo sapiens)

 10090  NCBI taxonomy (mouse, Mus musculus)

 8364  NCBI taxonomy (tropical clawed frog, Xenopus tropicalis)

 7955  NCBI taxonomy (zebrafish, Danio rerio)

 0000-0003-1640-4010  ORCID identifier (Rauan Kaiyrzhanov)

 0000-0002-7559-6529  ORCID identifier (Sheng-Jia Lin)

 0000-0003-4900-9877  ORCID identifier (Stephanie Efthymiou)

 0000-0001-8332-0672  ORCID identifier (Sabine Rudnik-Schöneborn)

 0000-0002-1856-0589  ORCID identifier (Vorasuk Shotelersuk)

 0000-0001-8860-7904  ORCID identifier (Patra Yeetong)

 0000-0003-2437-7526  ORCID identifier (Annalisa Vetro)

 0000-0003-0151-6482  ORCID identifier (Yalda Jamshidi)

 0000-0002-6719-3447  ORCID identifier (Barbara Vona)

 0000-0003-4730-5322  ORCID identifier (Mariasavina Severino)

 0000-0002-0429-1904  ORCID identifier (Gaurav K. Varshney)

 0000-0002-2866-7777  ORCID identifier (Henry Houlden)

 0000-0001-6763-1542  ORCID identifier (Reza Maroofian)

 1/279  Research Data Archive (supplemental material)

 02pttbw34  ROR identifier (02pttbw34, Baylor College of Medicine)

 01yvj7247  ROR identifier (01yvj7247, Bnai Zion Medical Center)

 01q9r1072  ROR identifier (01q9r1072, Boys Town National Research Hospital)

 03ccx3r49  ROR identifier (03ccx3r49, Centogene (Germany))

 020sr6z07  ROR identifier (020sr6z07, Centro Hospitalar Lisboa Norte)

 028wp3y58  ROR identifier (028wp3y58, Chulalongkorn University)

 04zjvnp94  ROR identifier (04zjvnp94, Clalit Health Services)

 01esghr10  ROR identifier (01esghr10, Columbia University Irving Medical Center)

 018y22094  ROR identifier (018y22094, Hazara University)

 041kmwe10  ROR identifier (041kmwe10, Imperial College London)

 03pt86f80  ROR identifier (03pt86f80, Innsbruck Medical University)

 0424g0k78  ROR identifier (0424g0k78, Istituto Giannina Gaslini)

 01jgj2p89  ROR identifier (01jgj2p89, King Fahd Medical City)

 0149jvn88  ROR identifier (0149jvn88, King Saud bin Abdulaziz University for Health Sciences)

 02kswqa67  ROR identifier (02kswqa67, Marmara University)

 04sfka033  ROR identifier (04sfka033, Mashhad University of Medical Sciences)

 01n2xwm51  ROR identifier (01n2xwm51, Meyer Children's Hospital)

 048d1b238  ROR identifier (048d1b238, Miami Children's Hospital)

 05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

 02n85j827  ROR identifier (02n85j827, National Research Centre)

 01kj2bm70  ROR identifier (01kj2bm70, Newcastle University)

 02w91w637  ROR identifier (02w91w637, Newcastle upon Tyne Hospital)

 0536t7y80  ROR identifier (0536t7y80, North Khorasan University of Medical Sciences)

 05wg1m734  ROR identifier (05wg1m734, Radboud University Nijmegen Medical Centre)

 00414dg76  ROR identifier (00414dg76, Rady Children's Hospital-San Diego)

 05tgdvt16  ROR identifier (05tgdvt16, Sabzevar University of Medical Sciences)

 040f08y74  ROR identifier (040f08y74, St George's, University of London)

 02kkvpp62  ROR identifier (02kkvpp62, Technical University of Munich)

 02emvsg33  ROR identifier (02emvsg33, Tajik State Medical University)

 03mwgfy56  ROR identifier (03mwgfy56, Tarbiat Modares University)

 03qryx823  ROR identifier (03qryx823, Technion – Israel Institute of Technology)

 01c4pz451  ROR identifier (01c4pz451, Tehran University of Medical Sciences)

 05cz92x43  ROR identifier (05cz92x43, Texas Children's Hospital)

 04tnbqb63  ROR identifier (04tnbqb63, The Francis Crick Institute)

 00ey54k21  ROR identifier (00ey54k21, Universidade de Ribeirão Preto)

 01zgy1s35  ROR identifier (01zgy1s35, University Medical Center Hamburg-Eppendorf)

 02jx3x895  ROR identifier (02jx3x895, University College London)

 021ft0n22  ROR identifier (021ft0n22, University Medical Center Göttingen)

 04dkp9463  ROR identifier (04dkp9463, University of Amsterdam)

 00840ea57  ROR identifier (00840ea57, University of Basrah)

 03rmrcq20  ROR identifier (03rmrcq20, University of British Columbia)

 0168r3w48  ROR identifier (0168r3w48, University of California, San Diego)

 03yghzc09  ROR identifier (03yghzc09, University of Exeter)

 04jr1s763  ROR identifier (04jr1s763, University of Florence)

 0245cg223  ROR identifier (0245cg223, University of Freiburg)

 044pcn091  ROR identifier (044pcn091, University of Mississippi Medical Center)

 01ee9ar58  ROR identifier (01ee9ar58, University of Nottingham)

 03ykbk197  ROR identifier (03ykbk197, University of Portsmouth)

 03a1kwz48  ROR identifier (03a1kwz48, University of Tübingen)

 04pp8hn57  ROR identifier (04pp8hn57, Utrecht University)

 CVCL_0224  SciCrunch identifier (RRID:CVCL_0224, COS-7)

 SCR_002798  SciCrunch identifier (RRID:SCR_002798, GraphPad Prism)

 SCR_003411  SciCrunch identifier (RRID:SCR_003411, PRIDE)

 SCR_003139  SciCrunch identifier (RRID:SCR_003139, Primer3)

 SCR_018063  SciCrunch identifier (RRID:SCR_018063, Zeiss LSM 710 Confocal Inverted Microscope)

 UP000000437  UniProt proteome identifier (UP000000437, reused)

 UP000008143  UniProt Proteome identifier (UP000008143, reused)

 goeseek.gwdguser.de/studies/166  Supplemental material (goeseek study)

 mbexc.de...rders/  Website entry (mbexc.de)

Linked Antibodies

PIDAGTypeAntigen symbolAntibody Registry IDName
primary-1265primaryATPBAB_301438ATPB
primary-1266primaryOxidative Stress Defense (Catalase, SOD1, TRX, smooth muscle Actin) Western Blot Cocktail