PMID- 10513892
OWN - NLM
STAT- MEDLINE
DCOM- 19991104
LR  - 20190607
IS  - 0144-8463 (Print)
IS  - 0144-8463 (Linking)
VI  - 19
IP  - 3
DP  - 1999 Jun
TI  - Lysosomal alpha-D-mannosidase.
PG  - 157-62
AB  - Alpha-mannosidosis in the human is an autosomal recessive lysosomal storage
      disease caused by a deficiency of lysosomal alpha-D-mannosidasea activity.
      Lysosomal alpha-D-mannosidase is involved in the catabolism of N-linked
      glycoproteins through the sequential degradation of high-mannose, hybrid and
      complex oligosaccharides. This review is focused on human, mouse, bovine and
      feline genes coding for lysosomal alpha-D-mannosidase. In particular the
      exon-intron structure of the genes, their promoters, and the identification of
      mutations causing the disease have been examined. The construction, by homologous
      recombination, of a mouse model of alpha-mannosidosis is reported.
FAU - Beccari, T
AU  - Beccari T
AD  - Dipartimento di Biologia Cellulare e Molecolare, Sezione di Biochimica e Biologia
      Molecolare, Universita degli Studi di Perugia, Italy. dbcm@krene.it
FAU - Stinchi, S
AU  - Stinchi S
FAU - Orlacchio, A
AU  - Orlacchio A
LA  - eng
PT  - Journal Article
PT  - Review
PL  - England
TA  - Biosci Rep
JT  - Bioscience reports
JID - 8102797
RN  - EC 3.2.1.- (Mannosidases)
SB  - IM
MH  - Animals
MH  - Cats
MH  - Cattle
MH  - Humans
MH  - Lysosomes/*enzymology
MH  - Mannosidases/*genetics/metabolism
MH  - Mice
MH  - Sequence Homology, Nucleic Acid
RF  - 28
EDAT- 1999/10/08 00:00
MHDA- 1999/10/08 00:01
CRDT- 1999/10/08 00:00
PHST- 1999/10/08 00:00 [pubmed]
PHST- 1999/10/08 00:01 [medline]
PHST- 1999/10/08 00:00 [entrez]
AID - 10.1023/a:1020217501465 [doi]
PST - ppublish
SO  - Biosci Rep. 1999 Jun;19(3):157-62. doi: 10.1023/a:1020217501465.