Journal article

Heterogeneous nuclear ribonucleoproteins in amyotrophic lateral sclerosis: What do we know?

D Moujalled, AR White

Future Neurology | Published : 2014


Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset motor neuron disease that results from the progressive loss of motor neurons in the brainstem and spinal cord, and of upper motor neurons in the motor cortex. TDP-43 was the first protein identified in ALS. It is present in cytoplasmic inclusions in motor neurons of affected patient brains and spinal cords, a hallmark feature of this disease. Successive studies have identified missense mutations in TARDBP, and, to date, more than 40 mutations have been identified. Recent studies have indicated that altered RNA metabolism is a key feature of ALS. This article reviews an emerging role of heterogeneous nuclear ribonucleoproteins driving..

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University of Melbourne Researchers