Proteomics

Dataset Information

0

ACBD6-related progressive neurodevelopmental disorder – whole proteome of developing Xenopus tropicalis


ABSTRACT: In quadruplicate for each condition, 10 acbd6 WT, 68 acbd6 crispant and 71 crispant X. tropicalis embryos were incubated with 20 μM YnMyr for 17 h. After labelling, embryos were washed twice with fresh 0.05 x MMR, flash frozen in liquid nitrogen and stored at -80°C until further analysis.

INSTRUMENT(S): Orbitrap Eclipse

ORGANISM(S): Xenopus Tropicalis

TISSUE(S): Whole Body

SUBMITTER: Wouter Kallemeijn  

LAB HEAD: Professor Edward W. Tate

PROVIDER: PXD043680 | Pride | 2024-06-16

REPOSITORIES: Pride

Dataset's files

Source:
Action DRS
IA2838_kallemw_01_WWK_C012_1A.raw Raw
IA2838_kallemw_02_WWK_C012_1B.raw Raw
IA2838_kallemw_03_WWK_C012_1C.raw Raw
IA2838_kallemw_04_WWK_C012_1D.raw Raw
IA2838_kallemw_05_WWK_C012_2A.raw Raw
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Publications

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.

Kaiyrzhanov Rauan R   Rad Aboulfazl A   Lin Sheng-Jia SJ   Bertoli-Avella Aida A   Kallemeijn Wouter W WW   Godwin Annie A   Zaki Maha S MS   Huang Kevin K   Lau Tracy T   Petree Cassidy C   Efthymiou Stephanie S   Karimiani Ehsan Ghayoor EG   Hempel Maja M   Normand Elizabeth A EA   Rudnik-Schöneborn Sabine S   Schatz Ulrich A UA   Baggelaar Marc P MP   Ilyas Muhammad M   Sultan Tipu T   Alvi Javeria Raza JR   Ganieva Manizha M   Fowler Ben B   Aanicai Ruxandra R   Tayfun Gulsen Akay GA   Al Saman Abdulaziz A   Alswaid Abdulrahman A   Amiri Nafise N   Asilova Nilufar N   Shotelersuk Vorasuk V   Yeetong Patra P   Azam Matloob M   Babaei Meisam M   Monajemi Gholamreza Bahrami GB   Mohammadi Pouria P   Samie Saeed S   Banu Selina Husna SH   Pinto Basto Jorge J   Kortüm Fanny F   Bauer Mislen M   Bauer Peter P   Beetz Christian C   Garshasbi Masoud M   Issa Awatif Hameed AH   Eyaid Wafaa W   Ahmed Hind H   Hashemi Narges N   Hassanpour Kazem K   Herman Isabella I   Ibrohimov Sherozjon S   Abdul-Majeed Ban A BA   Imdad Maria M   Isrofilov Maksudjon M   Kaiyal Qassem Q   Khan Suliman S   Kirmse Brian B   Koster Janet J   Lourenço Charles Marques CM   Mitani Tadahiro T   Moldovan Oana O   Murphy David D   Najafi Maryam M   Pehlivan Davut D   Rocha Maria Eugenia ME   Salpietro Vincenzo V   Schmidts Miriam M   Shalata Adel A   Mahroum Mohammad M   Talbeya Jawabreh Kassem JK   Taylor Robert W RW   Vazquez Dayana D   Vetro Annalisa A   Waterham Hans R HR   Zaman Mashaya M   Schrader Tina A TA   Chung Wendy K WK   Guerrini Renzo R   Lupski James R JR   Gleeson Joseph J   Suri Mohnish M   Jamshidi Yalda Y   Bhatia Kailash P KP   Vona Barbara B   Schrader Michael M   Severino Mariasavina M   Guille Matthew M   Tate Edward W EW   Varshney Gaurav K GK   Houlden Henry H   Maroofian Reza R  

Brain : a journal of neurology 20240401 4


The acyl-CoA-binding domain-containing protein 6 (ACBD6) is ubiquitously expressed, plays a role in the acylation of lipids and proteins and regulates the N-myristoylation of proteins via N-myristoyltransferase enzymes (NMTs). However, its precise function in cells is still unclear, as is the consequence of ACBD6 defects on human pathophysiology. Using exome sequencing and extensive international data sharing efforts, we identified 45 affected individuals from 28 unrelated families (consanguinit  ...[more]

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