PMID- 10454131
OWN - NLM
STAT- MEDLINE
DCOM- 19990916
LR  - 20211203
IS  - 0304-3940 (Print)
IS  - 0304-3940 (Linking)
VI  - 270
IP  - 1
DP  - 1999 Jul 23
TI  - The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not 
      observed in European cases with familial Parkinson's disease.
PG  - 1-4
AB  - Recently an Ile93Met mutation in the ubiquitin-carboxy-terminal-hydrolase-L1 gene
      (UCH-L1) has been described in a German family with Parkinson's disease (PD). The
      authors showed that this mutation is responsible for an impaired proteolytic
      activity of the UCH-L1 protein and may lead to an abnormal aggregation of
      proteins in the brain. In order to determine the importance of this or any other 
      mutation in the coding region of the UCH-L1 gene in PD, we performed mutation
      analysis on Caucasian families with at least two affected sibs. We did not detect
      any mutations in the UCH-L1 gene, however, we cannot exclude mutations in the
      regulatory or intronic regions of the UCH-L1 gene since these regions were not
      sequenced. We conclude that the UCH-L1 gene is not a major gene responsible for
      familial PD.
FAU - Harhangi, B S
AU  - Harhangi BS
AD  - Department of Epidemiology & Biostatistics, Erasmus University Medical School,
      Rotterdam, The Netherlands.
FAU - Farrer, M J
AU  - Farrer MJ
FAU - Lincoln, S
AU  - Lincoln S
FAU - Bonifati, V
AU  - Bonifati V
FAU - Meco, G
AU  - Meco G
FAU - De Michele, G
AU  - De Michele G
FAU - Brice, A
AU  - Brice A
FAU - Durr, A
AU  - Durr A
FAU - Martinez, M
AU  - Martinez M
FAU - Gasser, T
AU  - Gasser T
FAU - Bereznai, B
AU  - Bereznai B
FAU - Vaughan, J R
AU  - Vaughan JR
FAU - Wood, N W
AU  - Wood NW
FAU - Hardy, J
AU  - Hardy J
FAU - Oostra, B A
AU  - Oostra BA
FAU - Breteler, M M
AU  - Breteler MM
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Ireland
TA  - Neurosci Lett
JT  - Neuroscience letters
JID - 7600130
RN  - 0 (DNA Primers)
RN  - 0 (Nerve Tissue Proteins)
RN  - EC 3.1.2.- (Thiolester Hydrolases)
RN  - EC 3.4.19.12 (Ubiquitin Thiolesterase)
SB  - IM
MH  - Aged
MH  - *Amino Acid Substitution
MH  - DNA Primers
MH  - Exons
MH  - Female
MH  - France
MH  - Germany
MH  - Humans
MH  - Italy
MH  - Male
MH  - Middle Aged
MH  - Nerve Tissue Proteins/genetics
MH  - Netherlands
MH  - Nuclear Family
MH  - Parkinson Disease/enzymology/*genetics
MH  - *Point Mutation
MH  - Polymerase Chain Reaction
MH  - Thiolester Hydrolases/chemistry/*genetics
MH  - Ubiquitin Thiolesterase
MH  - Whites/*genetics
EDAT- 1999/08/24 00:00
MHDA- 1999/08/24 00:01
CRDT- 1999/08/24 00:00
PHST- 1999/08/24 00:00 [pubmed]
PHST- 1999/08/24 00:01 [medline]
PHST- 1999/08/24 00:00 [entrez]
AID - S0304-3940(99)00465-6 [pii]
AID - 10.1016/s0304-3940(99)00465-6 [doi]
PST - ppublish
SO  - Neurosci Lett. 1999 Jul 23;270(1):1-4. doi: 10.1016/s0304-3940(99)00465-6.