Emerging therapies for glycogen storage disease type I

被引：33

作者：

Koeberl, D. D. ^{[1
]}

Kishnani, P. S. ^{[1
]}

Bali, D. ^{[1
]}

Chen, Y-T. ^{[1
,2
]}

机构：

[1] Duke Univ, Med Ctr, Div Med Genet, Dept Pediat, Durham, NC 27710 USA

[2] Acad Sinica, Inst Biomed Sci, Taipei 115, Taiwan

来源：

TRENDS IN ENDOCRINOLOGY AND METABOLISM | 2009年 / 20卷 / 05期

关键词：

GLUCOSE-6-PHOSPHATASE CATALYTIC SUBUNIT; DONOR LIVER-TRANSPLANTATION; MEDIATED GENE-THERAPY; HEPATOCELLULAR ADENOMA; RENAL DYSFUNCTION; CANINE MODEL; 1B; NEUTROPENIA; MANAGEMENT; EFFICACY;

D O I：

10.1016/j.tem.2009.02.003

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Glycogen storage disease type I (GSD I) is caused by deficiency of the glucose-6-phosphatase catalytic subunit in type la or of glucose-6-phosphate transporter in type lb. The cellular bases for disruptions of homeostasis have been increasingly understood in GSD I, including those for anemia, renal failure and neutropenia. Advances in the understanding of cellular abnormalities in GSD I have provided rationales for new therapy, and recent developments in gene therapy have led to potential curative treatments for GSD I. These advances will benefit patients with GSD I in the future, improving both quality of life and survival, as well as illuminating the molecular effects of altered metabolism upon multiple organ systems.

引用

页码：252 / 258

页数：7

共 61 条

[1] Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density lipoprotein particles contribute to Hyperlipidemia in glycogen storage disease type 1 [J].

Bandsma, Robert H. J. ;

Prinsen, Berthil H. ;

Van Der Velden, Monique De Sain ;

Rake, Jan-Peter ;

Boer, Theo ;

Smit, G. Peter A. ;

Reijngoud, Dirk-Jan ;

Kuipers, Folkert .

PEDIATRIC RESEARCH, 2008, 63 (06) :702-707

[2] Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors [J].

Beaty, RM ;

Jackson, M ;

Peterson, D ;

Bird, A ;

Brown, T ;

Benjamin, DK ;

Juopperi, T ;

Kishnani, P ;

Boney, A ;

Chen, YT ;

Koeberl, DD .

GENE THERAPY, 2002, 9 (15) :1015-1022

[3] A novel starch for the treatment of glycogen storage diseases [J].

Bhattacharya, K. ;

Orton, R. C. ;

Qi, X. ;

Mundy, H. ;

Morley, D. W. ;

Champion, M. P. ;

Eaton, S. ;

Tester, R. F. ;

Lee, P. J. .

JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 (03) :350-357

[4] The benefits of liver transplantation in glycogenosis type Ib [J].

Bhattacharya, K ;

Heaton, N ;

Rela, M ;

Walter, JH ;

Lee, PJ .

JOURNAL OF INHERITED METABOLIC DISEASE, 2004, 27 (04) :539-540

[5] A polymorphism within the G6PC2 gene is associated with fasting plasma glucose levels [J].

Bouatia-Naji, Nabila ;

Rocheleau, Ghislain ;

Van Lommel, Leentje ;

Lemaire, Katleen ;

Schuit, Frans ;

Cavalcanti-Proenca, Christine ;

Marchand, Marion ;

Hartikainen, Anna-Liisa ;

Sovio, Ulla ;

De Graeve, Franck ;

Rung, Johan ;

Vaxillaire, Martine ;

Tichet, Jean ;

Marre, Michel ;

Balkau, Beverley ;

Weill, Jacques ;

Elliott, Paul ;

Jarvelin, Marjo-Riitta ;

Meyre, David ;

Polychronakos, Constantin ;

Dina, Christian ;

Sladek, Robert ;

Froguel, Philippe .

SCIENCE, 2008, 320 (5879) :1085-1088

[6] GLYCOGEN-STORAGE-DISEASE TYPE IA IN 2 LITTERMATE MALTESE PUPPIES [J].

BRIX, AE ;

HOWERTH, EW ;

MCCONKIEROSELL, A ;

PETERSON, D ;

EGNOR, D ;

WELLS, MR ;

CHEN, YT .

VETERINARY PATHOLOGY, 1995, 32 (05) :460-465

[7] The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic [J].

Chen, Shih-Yin ;

Pan, Chi-Jiunn ;

Nandigama, Krishnamachary ;

Mansfield, Brian C. ;

Ambudkar, Suresh V. ;

Chou, Janice Y. .

FASEB JOURNAL, 2008, 22 (07) :2206-2213

[8]

Chen Y.-T., 2001, METABOLIC MOL BASIS, VI, P1521

[9]

CHEN YT, 1993, EUR J PEDIATR, V152, pS56

[10] Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-β [J].

Cheung, Yuk Yin ;

Kim, So Youn ;

Yiu, Wai Han ;

Pan, Chi-Jiunn ;

Jun, Hyun-Sik ;

Ruef, Robert A. ;

Lee, Eric J. ;

Westphal, Heiner ;

Mansfield, Brian C. ;

Chou, Janice Y. .

JOURNAL OF CLINICAL INVESTIGATION, 2007, 117 (03) :784-793

← 1 2 3 4 5 6 7 →