Northwestern University

Teepu Siddique

Han-Xiang Deng

Jianhua Yan

Wenjie Chen

Yi Yang

Gary E Schiltz

Thomas J Lukas

Afif Hentati

Hasan Arrat

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.

Molecular targets for ALS and related disorders

Disclosed are new small molecules and the uses thereof for inhibiting superoxide dismutase (SOD) expression. Also disclosed are pharmaceutical compositions comprising the small molecule inhibitors which may be administered in methods of treating diseases or disorders associated with elevated SOD expression or activity, including neurological diseases and disorders such as amyotrophic lateral sclerosis (ALS).

Small molecule inhibitors of superoxide dismutase expression

The present invention provides methods, kits, and compositions for detecting mutations in transient receptor potential cation channel, subfamily V, member 4 (TRPV4). In particular, mutations are detected in TRPV4 to detect diseases such as scapuloperoneal spinal muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy type IIC (HMSN IIC) or Charcot-Marie-Tooth disease type 2C (CMT2C).

Allelic disorders caused by mutations in TRPV4

Methods for diagnosing scapuloperoneal spinal muscular atrophy or Charcot-Marie-Tooth disease type 2C by detecting mutations in TRPV4

The present invention provides an isolated and purified &agr;-tocopherol transport protein polypeptide. Human recombinant &agr;-tocopherol transport protein, polynucleotides encoding human &agr;-tocopherol transport protein and methods of using &agr;-tocopherol transport protein polypeptides and polynucleotides are also provided.

Growing community of inventors

Wilmette, IL, United States of America

Teepu Siddique