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 :7728148
Publication Date : //

Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients.


The molecular basis of mitochondrial acetoacetyl-CoA thiolase (T2) deficiency was studied in two patients (GK11 and GK16). Fibroblasts from each patient had detectable immunoreactive T2 polypeptide (CRM). In pulse-chase experiments, fibroblasts from GK11 had two types of CRM: one (type I CRM) disappeared after a 24-hr chase and migrated more slowly than that of the normal control; the other (type II CRM) was detected with a small amount even after a 72-hr chase and had normal electrophoretic mobility. GK16's fibroblasts had a CRM (type III) which was also detectable even after a 72-hr chase and showed a slower mobility than type I CRM. By analyzing amplified cDNA and genomic fragments, we showed that both patients are genetic compounds; GK11 for the mutations N158D and T297M, and GK16 for the mutations A301P and IVS8 (+1). Expression analyses confirmed that mutant T2 subunits with N158D, T297M, and A301P correspond to type I, II, and III CRM, respectively. Among them, only the mutant T2 polypeptide with T297M appeared to have a detectable residual activity, in spite of its instability. Cotransfection of two cDNAs containing N158D and T297M suggested that heterotetramer formation reduces residual activity in GK11 cells.

Authors : Wakazono A , Fukao T , Yamaguchi S , Hori T , Orii T , Lambert M , Mitchell G A , Lee G W , Hashimoto T ,

Related products :

Catalog number Product name Quantity
GWB-678FF0 Anti- ACAT2 (acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)) Antibody
GWB-B0ACA4 Anti- ACAT2 (acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)) Antibody
201-20-0127 ACAT1{Homo sapiens acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase),}rabbit.pAb 0.1ml
EIAAB42257 Acat1,Acetoacetyl-CoA thiolase,Acetyl-CoA acetyltransferase, mitochondrial,Rat,Rattus norvegicus
EIAAB42258 ACAT1,Acetoacetyl-CoA thiolase,Acetyl-CoA acetyltransferase, mitochondrial,Bos taurus,Bovine
EIAAB42259 Acat1,Acetoacetyl-CoA thiolase,Acetyl-CoA acetyltransferase, mitochondrial,Mouse,Mus musculus
EIAAB42256 ACAT,ACAT1,Acetoacetyl-CoA thiolase,Acetyl-CoA acetyltransferase, mitochondrial,Homo sapiens,Human,MAT,T2
EIAAB42263 3-ketoacyl-CoA thiolase, mitochondrial,Acaa2,Acetyl-CoA acyltransferase,Beta-ketothiolase,Mitochondrial 3-oxoacyl-CoA thiolase,Rat,Rattus norvegicus
EIAAB42261 3-ketoacyl-CoA thiolase, mitochondrial,Acaa2,Acetyl-CoA acyltransferase,Beta-ketothiolase,Mitochondrial 3-oxoacyl-CoA thiolase,Mouse,Mus musculus
EIAAB42262 3-ketoacyl-CoA thiolase, mitochondrial,ACAA2,Acetyl-CoA acyltransferase,Beta-ketothiolase,Bos taurus,Bovine,Mitochondrial 3-oxoacyl-CoA thiolase
EIAAB42260 3-ketoacyl-CoA thiolase, mitochondrial,ACAA2,Acetyl-CoA acyltransferase,Beta-ketothiolase,Homo sapiens,Human,Mitochondrial 3-oxoacyl-CoA thiolase,T1
27-710 Acetyl-Coenzyme A acetyltransferase 2 is an enzyme involved in lipid metabolism. Reported patients with ACAT2 deficiency have shown severe mental retardation and hypotonus. The ACAT2 gene shows comple 0.1 mg
27-709 Acetyl-Coenzyme A acetyltransferase 2 is an enzyme involved in lipid metabolism. Reported patients with ACAT2 deficiency have shown severe mental retardation and hypotonus. The ACAT2 gene shows comple 0.1 mg
102029-52-7 Acetoacetyl coenzyme A sodium salt hyd Coenzyme A 1g
20-271-80070 ACAT1 - Mouse Anti ACAT1; EC 2.3.1.9; Acetoacetyl-CoA thiolase; T2 Monoclonal 0.1 mg
EIAAB42249 Acat2,Acetyl-CoA acetyltransferase, cytosolic,Cytosolic acetoacetyl-CoA thiolase,Rat,Rattus norvegicus
EIAAB42248 Acat2,Acetyl-CoA acetyltransferase, cytosolic,Cytosolic acetoacetyl-CoA thiolase,Mouse,Mus musculus
EIAAB42250 ACAT2,Acetyl-CoA acetyltransferase, cytosolic,Acetyl-CoA transferase-like protein,ACTL,Cytosolic acetoacetyl-CoA thiolase,Homo sapiens,Human
UB-E00454 Human Acetoacetyl Coenzyme A Synthetase(AACS)ELISA Kit 96T
QY-E00454 Human Acetoacetyl Coenzyme A Synthetase(AACS)ELISA Kit 96T
201-12-3068 Human Acetoacetyl Coenzyme A Synthetase(AACS)ELISA Kit 96T
TA596 G6PD Deficiency Qualitative Kit, 500 Test, Clinical Chemistry Kits
TA601 G6PD Deficiency Quantitative Kit, 75 Test, Clinical Chemistry Kits 5
TA602 G6PD Deficiency Quantitative Kit, 150 Test, Clinical Chemistry Kits
TA595 G6PD Deficiency Qualitative Kit, 250 Test, Clinical Chemistry Kits


 

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





GENTAUR Ltd.
Unicorn House, Station Cl
Hertfordshire, Potters Bar EN6 1TL
Whetstone London N20 9BH
Tel 020 3393 8531 Fax 020 8445 9411
uk@gentaur.com | Gentaur | 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
RIB 30004 00187 00010092253 10
BNP PARIBAS PARIS PL MAUBERT BIC BNPAFRPPPRG
IBAN FR76 3000 4001 8700 0100 9225 310
france@gentaur.com | Gentaur | 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

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 | Gentaur
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U






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