Rampoldi L, Danek A, Monaco AP: Clinical features and molecular bases of neuroacanthocytosis. J Mol Med. 2001, 80: 475-91. 10.1007/s00109-002-0349-z.
Article
Google Scholar
Stevenson VL, Hardie J: Acanthocytosis and neurological disorders. J Neurol. 2001, 248: 87-94. 10.1007/s004150170241.
Article
CAS
PubMed
Google Scholar
Lux SE, Palek J: Disorders of the red cell membrane . Blood Principles and Practice of Hematology. Edited by: Handin RI, Lux SE, Stossel TP. 1995, JB Lippincott Company, Philadelphia, PA, 1701-818.
Google Scholar
Calinisan V, Gravem D, Chen RP, Brittin S, Mohandas N, Lecomte MC, Gascard P: New insights into potential functions for the protein 4.1 superfamily of proteins in kidney epithelium. Fron Biosci. 2006, 11: 1646-66. 10.2741/1911.
Article
CAS
Google Scholar
Taylor-Harris PM, Keating LA, Maggs AM, Phillips GW, Birks EJ, Franklin CG, Yacoub MH, Baines AJ, Pinder JC: Cardiac muscle cell cytoskeletal protein 4.1: Analysis of transcripts and subcellular location-relevance to membrane integrity, microstrutture, and possible role in heart failure. Mamm Genome. 2005, 16: 137-51. 10.1007/s00335-004-2436-7.
Article
CAS
PubMed
Google Scholar
Coleman SK, Cai C, Mottershead DG, Haapalahti JP, Keinanen K: Surface expression of GluR-D AMPA receptor is dependent on an interaction between its C-terminal domain and a 4.1 protein. J Neurosci. 2003, 23: 798-806.
CAS
PubMed
Google Scholar
Hoover KB, Bryant PJ: The genetics of the protein 4.1 family: organizers of the membrane and cytoskeleleton. Curr Opin Cell Biol. 2000, 12: 229-34. 10.1016/S0955-0674(99)00080-0.
Article
CAS
PubMed
Google Scholar
Andrew SE, Goldberg YP, Theilmann J, Zeilser J, Hayden MR: A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum Mol Genet. 1994, 3: 65-7. 10.1093/hmg/3.1.65.
Article
CAS
PubMed
Google Scholar
Goldberg YP, Kremer B, Andrew SE, Theilmann J, Graham RK, Squitieri F, Telenius H, Adam S, Sajoo A, Starr E, Heiberg A, Wolff G, Hayden MR: Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nat Genet. 1993, 5: 174-9. 10.1038/ng1093-174.
Article
CAS
PubMed
Google Scholar
Dobson-Stone C, Danek A, Rampoldi L: Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet. 2002, 10: 773-81. 10.1038/sj.ejhg.5200866.
Article
CAS
PubMed
Google Scholar
Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Brown R, Vance J, Pericak-Vance M, Rudolf G, Carre S, Alonso E, Manfredi M, Nemeth AH, Monaco AP: A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet. 2001, 28: 119-20. 10.1038/88821.
Article
CAS
PubMed
Google Scholar
Ueno S, Maruki Y, Nakamura M, Tomemori Y, Kamae K, Tanabe H, Yamashita Y, Matsuda S, Kaneko S, Sano A: The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet. 2001, 28: 121-2. 10.1038/88825.
Article
CAS
PubMed
Google Scholar
Caprari P, Bozzi A, Malorni W, Bottini A, Iosi F, Santini MT, Salvati AM: Junctional sites of erythrocyte skeletal proteins are specific targets of tert-butylhydroperoxide oxidative damage. Chem Biol Interact. 1995, 94: 243-58. 10.1016/0009-2797(94)03339-A.
Article
CAS
PubMed
Google Scholar
Kay MM, Goodman J, Goodman S, Lawrence C: Membrane protein band 3 alteration associated with neurologic disease and tissue-reactive antibodies. Exp Clin Immunogenet. 1990, 7: 181-99.
CAS
PubMed
Google Scholar
Bosman GJ, Bartholomeus IG, De Grip WJ, Horstik MW: Erythrocyte anion transporter and antibrain immunoreactivity in chorea-acanthocytosis. A contribution to etiology, genetics, and diagnosis. Brain Res Bull. 1994, 33: 523-8. 10.1016/0361-9230(94)90078-7.
Article
CAS
PubMed
Google Scholar
Olivieri O, De Franceschi L, Bordin L, Manfredi M, Miraglia del Giudice E, Perrotta S, De Vivo M, Guarini P, Corrocher R: Increased membrane protein phosphorylation and anion transport activity in corea-acanthocytosis. Haematologica. 1997, 82: 648-53.
CAS
PubMed
Google Scholar
Walker RH, Morgello S, Davidoff-Feldman B, Melnick A, Walsh MJ, Shashidharan P, Brin MF: Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions. Neurology. 2002, 58: 1031-3718.
Article
CAS
PubMed
Google Scholar
Gascard P, Mohandas N: New insights into functions of erythroid proteins in nonerythroid cells. Curr Opin Hematol. 2000, 7: 123-9. 10.1097/00062752-200003000-00009.
Article
CAS
PubMed
Google Scholar
Walensky LD, Shi ZT, Blackshaw S, DeVries AC, Demas GE, Gascard P, Nelson RJ, Conboy JG, Rubin EM, Snyder SH, Mohandas N: Neurobehavioral deficits in mice lacking the erythrocyte membrane cytoskeletal protein 4.1. Curr Biol. 1998, 8: 1269-72. 10.1016/S0960-9822(07)00536-2.
Article
CAS
PubMed
Google Scholar
Scott C, Keating L, Bellamy M, Baines AJ: Protein 4.1 in forebrain postsynaptic density preparations: enrichment of 4.1 gene products and detection of 4.1R binding proteins. Eur J Biochem. 2001, 268: 1084-94. 10.1046/j.1432-1327.2001.01968.x.
Article
CAS
PubMed
Google Scholar
Calabresi P, Centonze D, Gubellini P, Marfia GA, Pisani A, Sancesario G, Bernardi G: Synaptic transmission in the striatum: from plasticity to neurodegeneration. Prog Neurobiol. 2000, 61: 231-65. 10.1016/S0301-0082(99)00030-1.
Article
CAS
PubMed
Google Scholar
Goff DC, Leahy L, Berman I, Posever T, Herz L, Leon AC, Johnson SA, Lynch G: A placebo-controlled pilot study of the ampakine CX516 added to clozapine in schizophrenia. J Clin Psychopharmacol. 2001, 21: 484-7. 10.1097/00004714-200110000-00005.
Article
CAS
PubMed
Google Scholar
Porrino LJ, Daunias JB, Rogers GA, Hampson RE, Deadwyler SA: Facilitation of task performance and removal of the effects of sleep deprivation by an ampakine (CX717) in nonhuman primates. PLoS Biol. 2005, 3: e299-10.1371/journal.pbio.0030299.
Article
PubMed
PubMed Central
Google Scholar
Shi ZT, Afzal V, Coller B, Patel D, Chasis JA, Parra M, Lee G, Paszty C, Stevens M, Walensky L, Peters LL, Mohandas N, Rubin E, Conboy JG: Protein 4.1R-deficient mice are viable but have erythroid membrane skeleton abnormalities. J Clin Invest. 1999, 103: 331-40.
Article
CAS
PubMed
PubMed Central
Google Scholar
Rumbaugh G, Sia GM, Garner CC, Huganir RL: Synapse-associated protein-97 isoform-specific regulation of surface AMPA receptors and synaptic function in cultured neurons. J Neurosci. 2003, 23: 4567-76.
CAS
PubMed
Google Scholar
Kobayashi H, Kruger R, Markopoulou K, Wszolek Z, Chase B, Taka H, Mineki R, Murayama K, Riess O, Mizuno Y, Hattori N: Haploinsufficiency at the alpha-synuclein gene underlies phenotypic severity in familial Parkinson's disease. Brain. 2003, 126 (Pt 1): 32-42. 10.1093/brain/awg010.
Article
PubMed
Google Scholar
Comments
View archived comments (1)