PMID- 20494602
OWN - NLM
STAT- MEDLINE
DCOM- 20101019
LR  - 20231103
IS  - 1096-7206 (Electronic)
IS  - 1096-7192 (Print)
IS  - 1096-7192 (Linking)
VI  - 100
IP  - 4
DP  - 2010 Aug
TI  - A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a 
      Dachshund.
PG  - 349-56
LID - 10.1016/j.ymgme.2010.04.009 [doi]
AB  - The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases 
      characterized by progressive neurodegeneration and accumulation of 
      autofluorescent storage granules. A 9-month-old Miniature Dachshund presented 
      with NCL-like signs that included disorientation, ataxia, weakness, visual 
      impairment, and behavioral changes. Neurons throughout the CNS contained 
      autofluorescent lysosomal inclusions with granular osmiophilic deposit (GROD) 
      ultrastructure characteristic of classical infantile NCL (INCL). Human INCL is an 
      autosomal recessive disorder that results from mutations in PPT1, a gene that 
      encodes the enzyme palmitoyl protein thioesterase 1 (PPT1; EC 3.1.22). 
      Resequencing of PPT1 from the affected dog revealed that the dog was homozygous 
      for a single nucleotide insertion in exon 8 (PPT1 c.736_737insC), upstream from 
      the His289 active site. Brain tissue from this dog lacked PPT1 activity. The sire 
      and dam of the propositus were heterozygous for the c.736_737insC mutation; 
      whereas, 127 unrelated Dachshunds were homozygous for the wild-type allele. This 
      is the first reported instance of canine NCL caused by a mutation in PPT1.
CI  - Copyright 2010 Elsevier Inc. All rights reserved.
FAU - Sanders, Douglas N
AU  - Sanders DN
AD  - Mason Eye Institute, University of Missouri School of Medicine, Columbia, MO, 
      USA.
FAU - Farias, Fabiana H
AU  - Farias FH
FAU - Johnson, Gary S
AU  - Johnson GS
FAU - Chiang, Vivian
AU  - Chiang V
FAU - Cook, James R
AU  - Cook JR
FAU - O'Brien, Dennis P
AU  - O'Brien DP
FAU - Hofmann, Sandra L
AU  - Hofmann SL
FAU - Lu, Jui-Yun
AU  - Lu JY
FAU - Katz, Martin L
AU  - Katz ML
LA  - eng
GR  - R37 NS036867/NS/NINDS NIH HHS/United States
GR  - R37 NS036867-14/NS/NINDS NIH HHS/United States
GR  - R37NS036867/NS/NINDS NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20100424
PL  - United States
TA  - Mol Genet Metab
JT  - Molecular genetics and metabolism
JID - 9805456
RN  - 0 (DNA, Complementary)
RN  - EC 3.1.2.- (Thiolester Hydrolases)
RN  - EC 3.1.2.22 (palmitoyl-protein thioesterase)
SB  - IM
MH  - Alleles
MH  - Animals
MH  - Base Sequence
MH  - Brain/pathology/ultrastructure
MH  - DNA Mutational Analysis
MH  - DNA, Complementary/genetics
MH  - Dog Diseases/*enzymology/*genetics
MH  - Dogs
MH  - Enzyme Assays
MH  - Exons/genetics
MH  - Fatal Outcome
MH  - Male
MH  - Microscopy, Fluorescence
MH  - Molecular Sequence Data
MH  - Mutation/*genetics
MH  - Neuronal Ceroid-Lipofuscinoses/enzymology/genetics/*veterinary
MH  - Retina/pathology
MH  - Sequence Alignment
MH  - Thiolester Hydrolases/*genetics
PMC - PMC2930207
MID - NIHMS201023
EDAT- 2010/05/25 06:00
MHDA- 2010/10/20 06:00
PMCR- 2011/08/01
CRDT- 2010/05/25 06:00
PHST- 2010/03/22 00:00 [received]
PHST- 2010/04/20 00:00 [revised]
PHST- 2010/04/20 00:00 [accepted]
PHST- 2010/05/25 06:00 [entrez]
PHST- 2010/05/25 06:00 [pubmed]
PHST- 2010/10/20 06:00 [medline]
PHST- 2011/08/01 00:00 [pmc-release]
AID - S1096-7192(10)00173-3 [pii]
AID - 10.1016/j.ymgme.2010.04.009 [doi]
PST - ppublish
SO  - Mol Genet Metab. 2010 Aug;100(4):349-56. doi: 10.1016/j.ymgme.2010.04.009. Epub 
      2010 Apr 24.