A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy

Neuromuscular Disorders

Volumn 18, Issue 1, 2008, Pages 68-70

  Conforti, F L ^a   Sprovieri, T ^a   Mazzei, R ^a   Ungaro, C ^a   La Bella, V ^b   Tessitore, A ^c   Patitucci, A ^a   Magariello, A ^a   Gabriele, A L ^a   Tedeschi, G ^c   Simone, I L ^d   Majorana, G ^e   Valentino, P ^f   Condino, F ^a   Bono, F ^f   Monsurro M R ^c   Muglia, M ^a   Quattrone, A ^a,f  

^a INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

^b UNIVERSITY OF PALERMO   (Italy)

^c SECOND UNIVERSITY OF NAPLES   (Italy)

^d UNIVERSITY OF BARI   (Italy)

^e UNIVERSITY OF MESSINA   (Italy)

^f UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

Author keywords

ALS; Angiogenin gene; Association study

Indexed keywords

ANGIOGENIN;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 14; CYTOPROTECTION; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; ITALY; LINKAGE (GENETICS); MALE; MIDDLE AGED; MOTOR NEURONS; MUTATION; NERVE DEGENERATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RIBONUCLEASE, PANCREATIC;

EID: 38649097173     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2007.07.003     Document Type: Article

References (6)

1. Greenway M.J., Andersen P.M., Russ C., et al. ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. Nat Genet 38 4 (2006) 411-413
2. Lambrechts D., Lafuste P., Carmeliet P., and Conway E.M. Another angiogenic gene linked to amyotrophic lateral sclerosis. Trends Mol Med 12 8 (2006) 345-347
3. Greenway M.J., Alexander M.D., Ennis S., et al. A novel candidate region for ALS on chromosome 14q11.2. Neurology 63 10 (2004) 1936-1938
4. Corrado L., Battistini S., Penco S., et al. Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population. J Neurol Sci 258 1-2 (2007) 123-127
5. Kiraly O., Boulling A., Witt H., et al. Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis. Hum Mutat 28 5 (2007) 469-476
6. Gass J., Cannon A., Mackenzie I.R., et al. Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet 15 20 (2006) 2988-3001