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 :8401535
Publication Date : //

Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.


The autosomal recessive glycogen storage disease type II is associated with a deficiency of lysosomal alpha-glucosidase (acid maltase). This paper reports on the mutations in the lysosomal alpha-glucosidase alleles of an adult patient. A G-1927 to A transition was discovered in exon 14 causing the substitution of Gly-643 by Arg and a second C-2173 to T transition in exon 15 resulting in the substitution of Arg-725 by Trp. Each of the mutations was located in a different allele. The mutations were introduced in the wild-type lysosomal alpha-glucosidase cDNA and expressed in COS cells. Both mutations had a similar effect. The synthesis of the mutant enzyme precursors was not disturbed but the intracellular transport and maturation were impaired. As a result there was an overall deficiency of catalytic activity.

Authors : Hermans M M , Kroos M A , de Graaff E , Oostra B A , Reuser A J ,

Related products :

Catalog number Product name Quantity
27-783 Mutations in PHKG2 along with PHKA2 and PHKB, all three different genes of phosphorylase kinase (Phk) subunits, can give rise to glycogen storage disease of the liver. The autosomal-recessive, liver-s 0.05 mg
X2206P Phosphorylase, glycogen; muscle (McArdle syndrome, glycogen storage disease type V) (PYGM) type: Antigen Immunoaffinity Purified Polyclonal host: Rabbit Isotype: IgG 50
GWB-26C6F2 Phosphorylase Glycogen; Muscle (McArdle Syndrome Glycogen Storage Disease Type V) (PYGM) Rabbit anti-Human Polyclonal Antibody
X2206P Human Phosphorylase, glycogen; muscle (McArdle syndrome, glycogen storage disease type V) (PYGM) Antigen Immunoaffinity Purified Polyclonal 50
26-072 GYS2 transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan. Defects in GYS2 are the cause of glycogen storage disease type 0 (GSD0). 0.05 mg
EM343 Lysosomal alpha-glucosidase Elisa Kit 96T
EH747 Lysosomal alpha-glucosidase Elisa Kit 96T
ER245 Lysosomal alpha-glucosidase Elisa Kit 96T
26-483 LMF2 belongs to the lipase maturation factor family. LMF2 is involved in the maturation of specific proteins in the endoplasmic reticulum. It may be required for maturation and transport of active lip 0.05 mg
30-582 LMF2 belongs to the lipase maturation factor family. LMF2 is involved in the maturation of specific proteins in the endoplasmic reticulum. It may be required for maturation and transport of active lip 0.05 mg
CSB-EL009125BO Bovine Lysosomal alpha-glucosidase(GAA) ELISA kit 96T
CSB-EL009125HU Human Lysosomal alpha-glucosidase(GAA) ELISA kit 96T
gen4202 LYAG_BOVIN Lysosomal alpha-glucosidase ELISA tesk kit 1
gen4206 LYAG_HUMAN Lysosomal alpha-glucosidase ELISA tesk kit 1
gen4209 LYAG_MOUSE Lysosomal alpha-glucosidase ELISA tesk kit 1
CSB-EL009125BO Bovine Lysosomal alpha-glucosidase(GAA) ELISA kit SpeciesBovine 96T
gen4212 LYAG_RAT Lysosomal alpha-glucosidase ELISA tesk kit 1
CSB-EL009125HU Human Lysosomal alpha-glucosidase(GAA) ELISA kit SpeciesHuman 96T
29-978 Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutatio 0.05 mg
E0177m ELISA Kit FOR Lysosomal alpha-glucosidase; organism: Mouse; gene name: Gaa 96T
30-353 MAPT is differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. The mutations in the gene have been associated with several neurodegenerative disorde 0.05 mg
E0177b ELISA kit Acid maltase,Bos taurus,Bovine,GAA,Lysosomal alpha-glucosidase 96T
E0177m ELISA kit Acid maltase,Gaa,Lysosomal alpha-glucosidase,Mouse,Mus musculus 96T
E0177b ELISA Acid maltase,Bos taurus,Bovine,GAA,Lysosomal alpha-glucosidase 96T
E0177m ELISA Acid maltase,Gaa,Lysosomal alpha-glucosidase,Mouse,Mus musculus 96T


 

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: +49 0241 40 08 90 86, +49 0241 95 78 94 78, +49 0241 40 08 90 86
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