Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2121, doi. 10.1093/hmg/ddh223
- By:
- Publication type:
- Article
Works matching IS 09646906 AND DT 2004 AND VI 13 AND IP 18
Results: 16
1
2
Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1).
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2031, doi. 10.1093/hmg/ddh222
- By:
- Publication type:
- Article
3
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2155, doi. 10.1093/hmg/ddh221
- By:
- Publication type:
- Article
4
Efficacy of enzyme replacement therapy in α-mannosidosis mice: a preclinical animal study.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 1979, doi. 10.1093/hmg/ddh220
- By:
- Publication type:
- Article
5
Comparison of pathways controlling toxicity in the eye and brain in Drosophila models of human neurodegenerative diseases.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2011, doi. 10.1093/hmg/ddh214
- By:
- Publication type:
- Article
6
Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2133, doi. 10.1093/hmg/ddh219
- By:
- Publication type:
- Article
7
The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a–TIMM13 complex.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2101, doi. 10.1093/hmg/ddh217
- By:
- Publication type:
- Article
8
Reduced cellular expression and activity of the P129T mutant of human fatty acid amide hydrolase: evidence for a link between defects in the endocannabinoid system and problem drug use.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2113, doi. 10.1093/hmg/ddh216
- By:
- Publication type:
- Article
9
Differential expression of a novel ankyrin containing E3 ubiquitin-protein ligase, Hace1, in sporadic Wilms' tumor versus normal kidney.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2061, doi. 10.1093/hmg/ddh215
- By:
- Publication type:
- Article
10
Transcription profiling of inner ears from Pou4f3ddl/ddl identifies Gfi1 as a target of the Pou4f3 deafness gene.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2143, doi. 10.1093/hmg/ddh218
- By:
- Publication type:
- Article
11
A Drosophila model of early onset torsion dystonia suggests impairment in TGF-β signaling.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2019, doi. 10.1093/hmg/ddh208
- By:
- Publication type:
- Article
12
Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 1999
- By:
- Publication type:
- Article
13
The R172W mutation in peripherin/rds causes a cone–rod dystrophy in transgenic mice.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2075, doi. 10.1093/hmg/ddh211
- By:
- Publication type:
- Article
14
Identification of loci determining susceptibility to the lethal effects of amyloid precursor protein transgene overexpression.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 1989, doi. 10.1093/hmg/ddh210
- By:
- Publication type:
- Article
15
Epileptic-like convulsions associated with LIS-1 in the cytoskeletal control of neurotransmitter signaling in Caenorhabditis elegans.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2043, doi. 10.1093/hmg/ddh209
- By:
- Publication type:
- Article
16
Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2089, doi. 10.1093/hmg/ddh213
- By:
- Publication type:
- Article