Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
- D. Rosen, T. Siddique, Robert H. Brown
- BiologyNature
- 1 March 1993
Tight genetic linkage between FALS and a gene that encodes a cytosolic, Cu/Zn-binding superoxide dismutase (SOD1), a homodimeric metalloenzyme that catalyzes the dismutation of the toxic superoxide anion O–2 to O2 and H2O2 is reported.
Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families.
- E. Corder, A. Saunders, M. Pericak-Vance
- Biology, PsychologyScience
- 13 August 1993
APOE-epsilon 4 gene dose is a major risk factor for late onset AD and, in these families, homozygosity for APOE-epsilon 4 was virtually sufficient to cause AD by age 80.
Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
- T. Kwiatkowski, D. A. Bosco, R. H. Brown
- BiologyScience
- 27 February 2009
Neuronal cytoplasmic protein aggregation and defective RNA metabolism thus appear to be common pathogenic mechanisms involved in ALS and possibly in other neurodegenerative disorders.
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
- J. Lambert, C. Ibrahim-Verbaas, P. Amouyel
- BiologyNature Genetics
- 1 December 2013
In addition to the APOE locus (encoding apolipoprotein E), 19 loci reached genome-wide significance (P < 5 × 10−8) in the combined stage 1 and stage 2 analysis, of which 11 are newly associated with Alzheimer's disease.
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
- A. Goate, M. Chartier-Harlin, J. Hardy
- BiologyNature
- 21 February 1991
It is demonstrated that in this kindred, which shows linkage to chromosome 21 markers, there is a point mutation in the APP gene that causes an amino-acid substitution close to the carboxy terminus of the β-amyloid peptide.
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
- R. Sherrington, E. Rogaev, P. George-Hyslop
- BiologyNature
- 29 June 1995
A minimal cosegregating region containing the AD3 gene is defined, and at least 19 different transcripts encoded within this region corresponds to a novel gene whose product is predicted to contain multiple transmembrane domains and resembles an integral membrane protein.
Effects of Age, Sex, and Ethnicity on the Association Between Apolipoprotein E Genotype and Alzheimer Disease: A Meta-analysis
- L. Farrer, L. Cupples, C. Duijn
- Medicine
- 22 October 1997
The APOE∈4 allele represents a major risk factor for AD in all ethnic groups studied, across all ages between 40 and 90 years, and in both men and women.
Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease.
- W. Strittmatter, A. Saunders, A. Roses
- BiologyProceedings of the National Academy of Sciences…
- 1 March 1993
It is demonstrated that there was a highly significant association of apolipoprotein E type 4 allele (APOE-epsilon 4) and late-onset familial Alzheimer disease.
Mutations in UBQLN2 cause dominant X-linked juvenile and adult onset ALS and ALS/dementia
- H. Deng, Wenjie Chen, T. Siddique
- BiologyNature
- 4 August 2011
Findings link abnormalities in ubiquilin 2 to defects in the protein degradation pathway, abnormal protein aggregation and neurodegeneration, indicating a common pathogenic mechanism that can be exploited for therapeutic intervention.
Functional impact of global rare copy number variation in autism spectrum disorders
- D. Pinto, A. Pagnamenta, C. Betancur
- BiologyNature
- 15 July 2010
The genome-wide characteristics of rare (<1% frequency) copy number variation in ASD are analysed using dense genotyping arrays to reveal many new genetic and functional targets in ASD that may lead to final connected pathways.
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