Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.
aceruloplasminemia
anemia
ceruloplasmin
ferritin
iron metabolism
neurodegenerative disease
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
30 Mar 2020
30 Mar 2020
Historique:
received:
12
03
2020
accepted:
26
03
2020
entrez:
3
4
2020
pubmed:
3
4
2020
medline:
5
1
2021
Statut:
epublish
Résumé
Aceruloplasminemia is a rare autosomal recessive genetic disease characterized by mild microcytic anemia, diabetes, retinopathy, liver disease, and progressive neurological symptoms due to iron accumulation in pancreas, retina, liver, and brain. The disease is caused by mutations in the Ceruloplasmin (
Identifiants
pubmed: 32235485
pii: ijms21072374
doi: 10.3390/ijms21072374
pmc: PMC7178074
pii:
doi:
Substances chimiques
Ceruloplasmin
EC 1.16.3.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Veneto Region
ID : PRIHTA no.2014-00000451
Organisme : Spanish Secretary of Research, Development and Innovation (MINECO) Spain
ID : SAF2015-70412-R
Organisme : Fundação de Apoio à Pesquisa do Estado de São Paulo (FAPESP)
ID : 2016/08072-9
Organisme : Fondazione Cariverona
ID : 2014.0851
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Fundação de Apoio à Pesquisa do Estado de São Paulo (FAPESP)
ID : 2014/00984-3
Références
J Neurol Neurosurg Psychiatry. 2008 Apr;79(4):467-70
pubmed: 17911185
Annu Rev Nutr. 2002;22:439-58
pubmed: 12055353
Biometals. 2003 Mar;16(1):205-13
pubmed: 12572680
Mol Genet Genomic Med. 2015 May;3(3):221-32
pubmed: 26029709
J Comput Biol. 1997 Fall;4(3):311-23
pubmed: 9278062
Bioinformatics. 2009 May 1;25(9):1189-91
pubmed: 19151095
FASEB J. 2019 Dec;33(12):13492-13502
pubmed: 31560858
Nucleic Acids Res. 2004 Mar 19;32(5):1792-7
pubmed: 15034147
Nucleic Acids Res. 2016 Jul 8;44(W1):W344-50
pubmed: 27166375
Am J Hematol. 2017 Jun;92(6):562-568
pubmed: 28335084
Neurology. 1987 May;37(5):761-7
pubmed: 3574673
Acta Crystallogr D Biol Crystallogr. 2007 Feb;63(Pt 2):240-8
pubmed: 17242517
J Comput Chem. 2004 Oct;25(13):1605-12
pubmed: 15264254
Nucleic Acids Res. 2010 Jan;38(Database issue):D211-22
pubmed: 19920124
Front Neurosci. 2019 Apr 05;13:325
pubmed: 31024241
Am J Hematol. 2016 Jun;91(4):420-5
pubmed: 26799139
Blood. 2018 Feb 22;131(8):899-910
pubmed: 29237594
Nucleic Acids Res. 1992 Nov 11;20(21):5533-40
pubmed: 1454517
Cell. 2017 Jan 26;168(3):344-361
pubmed: 28129536
Blood. 2014 Jun 19;123(25):3873-86; quiz 4005
pubmed: 24665134
Ann Neurol. 1997 Mar;41(3):404-7
pubmed: 9066364
Biochim Biophys Acta. 2010 Nov;1802(11):968-75
pubmed: 20655381
Neuropathology. 2015 Feb;35(1):83-90
pubmed: 25168455
Cell Metab. 2015 Nov 3;22(5):777-87
pubmed: 26437604
Eur Neurol. 1999;42(3):157-62
pubmed: 10529542
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Br J Haematol. 2013 Jan;160(1):12-24
pubmed: 23057559
J Biol Chem. 2000 Feb 11;275(6):4305-10
pubmed: 10660599
Curr Neuropharmacol. 2019;17(6):539-549
pubmed: 29737252
PLoS One. 2013 Jul 03;8(7):e67145
pubmed: 23843990
Mutat Res. 2018 Jul - Sep;777:52-63
pubmed: 30115430
Int Rev Neurobiol. 2013;110:125-51
pubmed: 24209437
Nat Methods. 2010 Apr;7(4):248-9
pubmed: 20354512
EMBO Mol Med. 2018 Jan;10(1):91-106
pubmed: 29183916
Parkinsonism Relat Disord. 2017 Mar;36:33-40
pubmed: 28012953
Nucleic Acids Res. 2009 May;37(9):e67
pubmed: 19339519
Science. 2004 Dec 17;306(5704):2090-3
pubmed: 15514116
Physiol Rev. 2013 Oct;93(4):1721-41
pubmed: 24137020
Front Neurosci. 2018 Dec 04;12:903
pubmed: 30568573
Brain Dev. 2007 Aug;29(7):450-3
pubmed: 17307325
Parkinsonism Relat Disord. 2018 Jun;51:36-42
pubmed: 29503155
Nat Protoc. 2009;4(7):1073-81
pubmed: 19561590
J Biol Chem. 1991 Mar 15;266(8):5128-34
pubmed: 2002050