Did you know ? If you order before Friday 14h we deliver 90PCT of the the time next Tuesday, GENTAUR another in time delivery

Pubmed ID :29893856
Publication Date : //

Biallelic missense variants in ZBTB11 can cause intellectual disability in human.


Exploring genes and pathways underlying Intellectual Disability (ID) provides insight into brain development and function, clarifying the complex puzzle of how cognition develops. As part of ongoing systematic studies to identify candidate ID genes, linkage analysis and next generation sequencing revealed ZBTB11, as a novel candidate ID gene. ZBTB11 encodes a less-studied transcription regulator and the two identified missense variants in this study may disrupt canonical Zn2+-binding residues of its C2H2 zinc finger domain, leading to possible altered DNA binding. Using HEK293T cells transfected with wild type and mutant GFP-ZBTB11 constructs, we found the ZBTB11 mutants being excluded from the nucleolus, where the wild-type recombinant protein is predominantly localized. Pathway analysis applied to ChIP-seq data deposited in the ENCODE database supports the localization of ZBTB11 in nucleoli, highlighting associated pathways such as rRNA synthesis, ribosomal assembly, RNA modification, stress sensing and provides a direct link between subcellular ZBTB11 location and its function. Furthermore, considering the report of prominent brain and spinal cord degeneration in a zebrafish Zbtb11 mutant, we investigated ZBTB11-ortholog knockdown in Drosophila melanogaster brain by targeting RNAi using the UAS/Gal4 system. The observed approximate reduction to a third of the mushroom body size - possibly through neuronal reduction or degeneration - may affect neuronal circuits in the brain that are required for adaptive behavior, specifying the role of this gene in nervous system. In conclusion, we report two ID families segregating ZBTB11 biallelic mutations disrupting Zn2+-binding motifs, and provide functional evidence linking ZBTB11 dysfunction to this phenotype.

Authors : Fattahi Zohreh , Sheikh Taimoor I , Musante Luciana , Rasheed Memoona , Taskiran Ibrahim Ihsan , Harripaul Ricardo , Hu Hao , Kazeminasab Somayeh , Alam Muhammad Rizwan , Hosseini Masoumeh , Larti Farzaneh , Ghaderi Zhila , Celik Arzu , Ayub Muhammad , Ansar Muhammad , Haddadi Mohammad , Wienker Thomas F , Ropers Hans Hilger , Kahrizi Kimia , Vincent John B , Najmabadi H ,

Related products :

Catalog number Product name Quantity
ZBTB11 ZBTB11 Gene zinc finger and BTB domain containing 11
29-641 OTC is a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this en 0.1 mg
CSB-EL026314HU Human Zinc finger and BTB domain-containing protein 11(ZBTB11) ELISA kit 96T
I3023 Zinc finger and BTB domain-containing protein 11 (ZBTB11), Human, ELISA Kit 96T
EIAAB46809 Homo sapiens,Human,ZBTB11,Zinc finger and BTB domain-containing protein 11
CSB-EL026314HU Human Zinc finger and BTB domain-containing protein 11(ZBTB11) ELISA kit SpeciesHuman 96T
CSB-EL026314HU Human zinc finger and BTB domain containing 11 (ZBTB11) ELISA kit, Species Human, Sample Type serum, plasma 96T
ARP39083_P050 ZBTB11 50 µg
25-474 ZBTB11 Antibody 0.05 mg
044767A Zbtb11 250ul
027981A ZBTB11 250ul
053772A Zbtb11 250ul
ARP39083_P050 ZBTB11 50 µg
orb31608 ZBTB11 antibody 100 ug
orb31608 ZBTB11 antibody 20 ug(Trial size)
orb31608 ZBTB11 antibody 5 ug(Trial size)
NBL1-17962 ZBTB11 Lysate 0.1 mg
AP13526b ZBTB11 Antibody (C-term)
H00027107-R01 ZBTB11 Pre-design Chimera RNAi 10 nmol
'ARP39083_P050 ZBTB11 antibody Host rabbit 50
GWB-MM960F ZBTB11 antibody - N-terminal region
GTX123254 ZBTB11 Rabbit IgG antibody Ab Purified 0.1 ml
H00027107-R01 ZBTB11 Pre-design Chimera RNAi 20 nmol
GWB-BC3D06 ZBTB11 Over-expression Lysate Product
MV-h78722 ZBTB11 3&_39;UTR Lenti-reporter-GFP Virus 3.0ml


 

GENTAUR Belgium BVBA BE0473327336
Voortstraat 49, 1910 Kampenhout BELGIUM
Tel 0032 16 58 90 45

Fax 0032 16 50 90 45
info@gentaur.com | Gentaur





GENTAUR Ltd.
Howard Frank Turnberry House
1404-1410 High Road
Whetstone London N20 9BH
Tel 020 3393 8531 Fax 020 8445 9411
uk@gentaur.com | Gentaur

 

 




GENTAUR France SARL
9, rue Lagrange, 75005 Paris
Tel 01 43 25 01 50

Fax 01 43 25 01 60
RCS Paris B 484 237 888

SIRET 48423788800017

BNP PARIBAS PARIS PL MAUBERT BIC BNPAFRPPPRG

france@gentaur.com | Gentaur

GENTAUR GmbH
Marienbongard 20
52062 Aachen Deutschland
Support Karolina Elandt
Tel: 0035929830070
Fax: (+49) 241 56 00 47 88

Logistic :0241 40 08 90 86
Bankleitzahl 39050000
IBAN lautet DE8839050000107569353
Handelsregister Aachen HR B 16058
Umsatzsteuer-Identifikationsnummer *** DE 815175831
Steuernummer 201/5961/3925
de@gentaur.com | Gentaur

GENTAUR U.S.A
Genprice Inc, Logistics
547, Yurok Circle
San Jose, CA 95123
CA 95123
Tel (408) 780-0908,
Fax (408) 780-0908,
sales@genprice.com

Genprice Inc, Invoices and accounting
6017 Snell Ave, Ste 357
San Jose, CA 95123




GENTAUR Nederland BV
NL850396268B01 KVK nummer 52327027
Kuiper 1
5521 DG Eersel Nederland
Tel:  0208-080893  Fax: 0497-517897
nl@gentaur.com | Gentaur
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U






GENTAUR Spain
tel:0911876558
spain@gentaur.com | Gentaur






ГЕНТАУЪР БЪЛГАРИЯ
ID # 201 358 931 /BULSTAT
София 1000, ул. "Граф Игнатиев" 53 вх. В, ет. 2
Tel 0035924682280 Fax 0035924808322
e-mail: Sofia@gentaur.com | Gentaur
IBAN: BG11FINV91501014771636
BIC: FINVBGSF

GENTAUR Poland Sp. z o.o.


ul. Grunwaldzka 88/A m.2
81-771 Sopot, Poland
TEL Gdansk 058 710 33 44 FAX  058 710 33 48              

poland@gentaur.com | Gentaur

Other countries

Österreich +43720880899

Canada Montreal +15149077481

Ceská republika Praha +420246019719

Danmark +4569918806

Finland Helsset +358942419041

Magyarország Budapest +3619980547

Ireland Dublin+35316526556

Luxembourg+35220880274

Norge Oslo+4721031366

Sverige Stockholm+46852503438

Schweiz Züri+41435006251

US New York+17185132983

GENTAUR Italy
SRL IVA IT03841300167
Piazza Giacomo Matteotti, 6
24122 Bergamo Tel 02 36 00 65 93
Fax 02 36 00 65 94
italia@gentaur.com | Gentaur