Therapeutic Approaches in Lysosomal Storage Diseases

被引：33

作者：

Fernandez-Pereira, Carlos ^{[1
]}

San Millan-Tejado, Beatriz ^{[1
]}

Gallardo-Gomez, Maria ^{[1
]}

Perez-Marquez, Tania ^{[1
]}

Alves-Villar, Marta ^{[1
]}

Melcon-Crespo, Cristina ^{[1
,2
]}

Fernandez-Martin, Julian ^{[1
,3
]}

Ortolano, Saida ^{[1
]}

机构：

[1] SERGAS UVIGO, Galicia Sur Hlth Res Inst IIS Galicia Sur, Rare Dis & Pediat Med Grp, Vigo 36312, Spain

[2] Hosp Alvaro Cunqueiro, Dept Pediat, SERGAS, Vigo 36213, Spain

[3] Hosp Alvaro Cunqueiro, Dept Internal Med, SERGAS, Vigo 36213, Spain

来源：

BIOMOLECULES | 2021年 / 11卷 / 12期

关键词：

lysosomal storage diseases; enzyme replacement therapy; gene therapy; small molecules; autophagy; ENZYME-REPLACEMENT THERAPY; GENE-THERAPY; CLINICAL-OUTCOMES; FABRY DISEASE; HEMATOPOIETIC STEM; CHAPERONE THERAPY; AGALSIDASE-ALPHA; MECHANISM; AUTOPHAGY; RECEPTOR;

D O I：

10.3390/biom11121775

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Lysosomal Storage Diseases are multisystemic disorders determined by genetic variants, which affect the proteins involved in lysosomal function and cellular metabolism. Different therapeutic approaches, which are based on the physiologic mechanisms that regulate lysosomal function, have been proposed for these diseases. Currently, enzyme replacement therapy, gene therapy, or small molecules have been approved or are under clinical development to treat lysosomal storage disorders. The present article reviews the main therapeutic strategies that have been proposed so far, highlighting possible limitations and future perspectives.

引用

页数：19

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