PMID- 10196694
OWN - NLM
STAT- MEDLINE
DCOM- 19990615
LR  - 20131121
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 7
IP  - 2
DP  - 1999 Feb-Mar
TI  - An Asn > Lys substitution in saposin B involving a conserved amino acidic residue
      and leading to the loss of the single N-glycosylation site in a patient with
      metachromatic leukodystrophy and normal arylsulphatase A activity.
PG  - 125-30
AB  - Sphingolipid activator proteins are small glycoproteins required for the
      degradation of sphingolipids by specific lysosomal hydrolases. Four of them,
      called saposins, are encoded by the prosaposin gene, the product of which is
      proteolytically cleaved into the four mature saposin proteins (saposins A, B, C, 
      D). One of these, saposin B, is necessary in the hydrolysis of sulphatide by
      arylsulphatase A where it presents the solubilised substrate to the enzyme. As an
      alternative to arylsulphatase A deficiency, deficiency of saposin B causes
      metachromatic leukodystrophy. We identified a previously undescribed mutation
      (N215K) in the prosaposin gene of a patient with metachromatic leukodystrophy but
      with normal arylsulphatase A activity and elevated sulphatide in urine. The
      mutation involves a highly conserved amino acidic residue and abolishes the only 
      N-glycosylation site of saposin B.
FAU - Regis, S
AU  - Regis S
AD  - Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Istituto G
      Gaslini, Genoa, Italy.
FAU - Filocamo, M
AU  - Filocamo M
FAU - Corsolini, F
AU  - Corsolini F
FAU - Caroli, F
AU  - Caroli F
FAU - Keulemans, J L
AU  - Keulemans JL
FAU - van Diggelen, O P
AU  - van Diggelen OP
FAU - Gatti, R
AU  - Gatti R
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 0 (Glycoproteins)
RN  - 0 (PSAP protein, human)
RN  - 0 (Saposins)
RN  - 0 (Sphingolipid Activator Proteins)
RN  - 7006-34-0 (Asparagine)
RN  - EC 3.1.6.1 (Arylsulfatases)
RN  - K3Z4F929H6 (Lysine)
SB  - IM
MH  - Amino Acid Sequence
MH  - *Amino Acid Substitution
MH  - Arylsulfatases/*metabolism
MH  - Asparagine/*genetics
MH  - Binding Sites
MH  - Child, Preschool
MH  - *Conserved Sequence
MH  - Glycoproteins/*genetics
MH  - Glycosylation
MH  - Humans
MH  - Leukodystrophy, Metachromatic
MH  - Lysine/*genetics
MH  - Male
MH  - Molecular Sequence Data
MH  - Saposins
MH  - Sphingolipid Activator Proteins
EDAT- 1999/04/10 00:00
MHDA- 1999/04/10 00:01
CRDT- 1999/04/10 00:00
PHST- 1999/04/10 00:00 [pubmed]
PHST- 1999/04/10 00:01 [medline]
PHST- 1999/04/10 00:00 [entrez]
AID - 10.1038/sj.ejhg.5200266 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 1999 Feb-Mar;7(2):125-30. doi: 10.1038/sj.ejhg.5200266.