Novel alpha-galactosidase A mutation in a female with recurrent strokes. (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• Novel alpha-galactosidase A mutation in a female with recurrent strokes. (Articolo in rivista) (literal)

Anno

• 2012-01-01T00:00:00+01:00 (literal)

Alternative label

• Tuttolomondo A, Duro G, Miceli S, Di Raimondo D, Pecoraro R, Serio A, Albeggiani G, Nuzzo D, Iemolo F, Pizzo F, Sciarrino S, Licata G, Pinto A. (2012)
  Novel alpha-galactosidase A mutation in a female with recurrent strokes.
  in Clinical biochemistry
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Tuttolomondo A, Duro G, Miceli S, Di Raimondo D, Pecoraro R, Serio A, Albeggiani G, Nuzzo D, Iemolo F, Pizzo F, Sciarrino S, Licata G, Pinto A. (literal)

Pagina inizio

• 1525 (literal)

Pagina fine

• 1530 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 45 (literal)

Rivista

• Clinical biochemistry (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

• 6 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 16-17 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Duro G, Albeggiani G, Nuzzo D, Sciarrino S (literal)

Titolo

• Novel alpha-galactosidase A mutation in a female with recurrent strokes. (literal)

Abstract

• Anderson-Fabry disease (AFD) is an X-linked inborn error of glycosphingolipid catabolism resulting from the deficient activity of the lysosomal exoglycohydrolase, a-galactosidase A. The complete genomic and cDNA sequences of the human alpha-galactosidase A gene have been determined and to date, several disease-causing alpha-galactosidase A mutations have been identified, including missense mutations, small deletions/insertions, splice mutations, and large gene rearrangements We report a case of a 56-year-old woman with recurrent cryptogenic strokes. Ophthalmological examination revealed whorled opacities of the cornea (cornea verticillata) and dilated tortuous conjunctival vessels. She did not show other typical signs of Fabry disease such as acroparesthesias and angiokeratoma. The patient's alpha-galactosidase A activity was 4.13nmol/mL/h in whole blood. Alpha-galactosidase A gene sequence analysis revealed a heterozygous single nucleotide point mutation at nucleotide c.550T>A in exon 4 in this woman, leading to the p.Tyr184Asn amino acid substitution. (literal)

Prodotto di

• Istituto di biomedicina e di immunologia molecolare \"Alberto Monroy\" (IBIM) (Istituto)
• Processi di aggregazione, misfolding di proteine e neuropatologie (SV.P17.008.008) (Modulo)

Autore CNR

• GIUSEPPE ALBEGGIANI (Unità di personale interno)
• SERAFINA SCIARRINO (Persona)
• DOMENICO NUZZO (Persona)
• GIOVANNI DURO (Persona)

Incoming links:

Autore CNR di

• SERAFINA SCIARRINO (Persona)
• GIOVANNI DURO (Persona)
• GIUSEPPE ALBEGGIANI (Unità di personale interno)
• DOMENICO NUZZO (Persona)

Prodotto

• Istituto di biomedicina e di immunologia molecolare \"Alberto Monroy\" (IBIM) (Istituto)
• Processi di aggregazione, misfolding di proteine e neuropatologie (SV.P17.008.008) (Modulo)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Clinical biochemistry (Rivista)