Type

Journal Article

Authors

Orla Hardiman
Robert H Brown
K Ravi Acharya
Andrew Green
Karen E Morrison
Jochen Prehn
Dairin Kieran
Robert Swingler
Victor Patterson
Colette Donaghy
and 5 others

Subjects

Biochemistry

Topics
chemistry ribonuclease pancreatic female amyotrophic lateral sclerosis angiogenin pedigree genetics male mutation missense middle aged protein conformation adult models molecular humans aged aged 80 and over

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. (2005)

Abstract We recently identified angiogenin (ANG) as a candidate susceptibility gene for amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder characterized by adult-onset loss of motor neurons. We now report the finding of seven missense mutations in 15 individuals, of whom four had familial ALS and 11 apparently 'sporadic' ALS. Our findings provide further evidence that variations in hypoxia-inducible genes have an important role in motor neuron degeneration.
Collections Ireland -> Royal College of Surgeons in Ireland -> PubMed

Full list of authors on original publication

Orla Hardiman, Robert H Brown, K Ravi Acharya, Andrew Green, Karen E Morrison, Jochen Prehn, Dairin Kieran, Robert Swingler, Victor Patterson, Colette Donaghy and 5 others

Experts in our system

1
Orla Hardiman
Trinity College Dublin
Total Publications: 132
 
2
Andrew Green
University College Dublin
Total Publications: 25
 
3
Jochen H M Prehn
Royal College of Surgeons in Ireland
Total Publications: 204