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US 9,173,897 B2Granted
Molecular targets for ALS and related disorders
AssigneeNorthwestern University
InventorsTeepu Siddique, Wenjie Chen, Han-Xiang Deng, Yi Yang
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Abstract
Provided herein are compositions and methods for diagnosis, risk assessment, research, and therapy related to amyotrophic lateral sclerosis (ALS) and ALS-related disorders. In particular, the present invention relates to mutations in the UBQLN2 gene that cause dominantly inherited chromosome X-linked ALS and ALS/dementia.
Claims4
A method of detecting a mutation in a UBQLN2 nucleic acid in a human sample, comprising:
- (a) contacting a UBQLN2 nucleic acid in a human sample with an oligonucleotide that specifically hybridizes to one or more missense mutations in a UBQLN2 nucleic acid, wherein the one or more missense mutations results in a substitution of a proline in the 12 P-X-X tandem repeats encoded by the UBQLN2 gene;
- and
- (b) detecting hybridization of the oligonucleotide with the UBQLN2 nucleic acid under specific hybridization conditions, wherein detection of hybridization is indicative of a mutation in the UBQLN2 nucleic acid.
A method of detecting a mutation in a UBQLN2 nucleic acid in a human sample, comprising:
- (a) contacting a UBQLN2 nucleic acid in a human sample with an oligonucleotide that specifically hybridizes to one or more missense mutations in a UBQLN2 nucleic acid, wherein the one or more missense mutations is selected from:
- c.1490C>A, c.1489C>T, c.1516C>A, c.1525C>T, and c.1573C>T;
- and
- (b) detecting hybridization of the oligonucleotide with the UBQLN2 nucleic acid under specific hybridization conditions, wherein detection of hybridization is indicative of a mutation in the UBQLN2 nucleic acid.
1 more element
Dependencies are inferred from the claim text.