| Abstract | Lysosomal diseases comprise a group of inherited disorders resulting from defects of lysosomal enzymes and their cofactors, and in many of them the nervous system is affected. Recently, enzyme replacement therapy with recombinant lysosomal enzymes has been clinically available for several lysosomal diseases. Such enzyme replacement therapies can improve non-neurological disorders but is not effective for neurological ones. In this review, we discuss the molecular pathologies of lysosomal diseases from the protein structural aspect, current enzyme replacement therapies, and attempts to develop enzyme replacement therapies effective for lysosomal diseases associated with neurological disorders, i.e., production of enzymes, brain-specific delivery and incorporation of lysosomal enzymes into cells. |
| Authors | Hitoshi Sakuraba, Makoto Sawada, Fumiko Matsuzawa, Sei-ichi Aikawa, Yasunori Chiba, Yoshifumi Jigami, Kohji Itoh
(Affiliation: CREST, JST, Kawaguchi, Japan. sakuraba at rinshoken.or.jp)
|
| Journal | CNS & neurological disorders drug targets
(CNS Neurol Disord Drug Targets)
Vol. 5
Issue 4
Pg. 401-13
(Aug 2006)
ISSN: 1871-5273 United Arab Emirates |
| PMID | 16918392
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
|
| Chemical References |
- Culture Media, Conditioned
- Enzymes
- Recombinant Fusion Proteins
- G(M2) Ganglioside
- beta-N-Acetylhexosaminidases
|
| Topics |
- Animals
- Culture Media, Conditioned
(pharmacology)
- Enzymes
(chemistry, genetics, therapeutic use)
- G(M2) Ganglioside
(metabolism)
- Humans
- Lysosomal Storage Diseases, Nervous System
(enzymology, genetics, therapy)
- Lysosomes
(enzymology, genetics, pathology)
- Recombinant Fusion Proteins
(chemistry, genetics, therapeutic use)
- Sandhoff Disease
(enzymology, genetics, physiopathology)
- Tay-Sachs Disease
(enzymology, genetics, physiopathology)
- beta-N-Acetylhexosaminidases
(chemistry, genetics)
|
