PMID- 10610178
OWN - NLM
STAT- MEDLINE
DCOM- 19991207
LR  - 20220408
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 23
IP  - 3
DP  - 1999 Nov
TI  - Spastin, a new AAA protein, is altered in the most frequent form of autosomal
      dominant spastic paraplegia.
PG  - 296-303
AB  - Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a genetically
      heterogeneous neurodegenerative disorder characterized by progressive spasticity 
      of the lower limbs. Among the four loci causing AD-HSP identified so far, the
      SPG4 locus at chromosome 2p2-1p22 has been shown to account for 40-50% of all
      AD-HSP families. Using a positional cloning strategy based on obtaining sequence 
      of the entire SPG4 interval, we identified a candidate gene encoding a new member
      of the AAA protein family, which we named spastin. Sequence analysis of this gene
      in seven SPG4-linked pedigrees revealed several DNA modifications, including
      missense, nonsense and splice-site mutations. Both SPG4 and its mouse orthologue 
      were shown to be expressed early and ubiquitously in fetal and adult tissues. The
      sequence homologies and putative subcellular localization of spastin suggest that
      this ATPase is involved in the assembly or function of nuclear protein complexes.
FAU - Hazan, J
AU  - Hazan J
AD  - Genoscope, Evry, France. jamile@genoscope.cns.fr
FAU - Fonknechten, N
AU  - Fonknechten N
FAU - Mavel, D
AU  - Mavel D
FAU - Paternotte, C
AU  - Paternotte C
FAU - Samson, D
AU  - Samson D
FAU - Artiguenave, F
AU  - Artiguenave F
FAU - Davoine, C S
AU  - Davoine CS
FAU - Cruaud, C
AU  - Cruaud C
FAU - Durr, A
AU  - Durr A
FAU - Wincker, P
AU  - Wincker P
FAU - Brottier, P
AU  - Brottier P
FAU - Cattolico, L
AU  - Cattolico L
FAU - Barbe, V
AU  - Barbe V
FAU - Burgunder, J M
AU  - Burgunder JM
FAU - Prud'homme, J F
AU  - Prud'homme JF
FAU - Brice, A
AU  - Brice A
FAU - Fontaine, B
AU  - Fontaine B
FAU - Heilig, B
AU  - Heilig B
FAU - Weissenbach, J
AU  - Weissenbach J
LA  - eng
SI  - GENBANK/AJ246001
SI  - GENBANK/AJ246002
SI  - GENBANK/AJ246003
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (RNA, Messenger)
RN  - EC 3.6.1.- (Adenosine Triphosphatases)
RN  - EC 3.6.4.3 (Spastin)
RN  - EC 5.6.1.1 (SPAST protein, human)
RN  - EC 5.6.1.1 (Spast protein, mouse)
SB  - IM
MH  - Adenosine Triphosphatases/chemistry/*genetics/metabolism
MH  - Amino Acid Motifs
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Cells, Cultured
MH  - Cloning, Molecular
MH  - DNA Mutational Analysis
MH  - Exons/genetics
MH  - Expressed Sequence Tags
MH  - Humans
MH  - Introns/genetics
MH  - Mice
MH  - Mitochondria, Muscle/metabolism
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Oxidative Phosphorylation
MH  - RNA, Messenger/analysis/genetics
MH  - Sequence Alignment
MH  - Sequence Homology, Amino Acid
MH  - Spastic Paraplegia, Hereditary/enzymology/*genetics/metabolism/pathology
MH  - Spastin
EDAT- 1999/12/28 09:00
MHDA- 2001/03/23 10:01
CRDT- 1999/12/28 09:00
PHST- 1999/12/28 09:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/12/28 09:00 [entrez]
AID - 10.1038/15472 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Nov;23(3):296-303. doi: 10.1038/15472.