Identification of three novel arylsulfatase A mutations as a cause of metachromatic leukodystrophy

被引：0
|
作者：
Önder, E.
Sinici, I.
Sönmez, F. M.
Topçu, M.
Özkara, H. A.
机构：
[1] Univ Hacettepe, Fac Med, Dept Biochem, TR-06100 Ankara, Turkey
[2] Karadeniz Tech Univ, Fac Med, Dept Pediat, Trabzon, Turkey
[3] Univ Hacettepe, Fac Med, Dept Pediat, TR-06100 Ankara, Turkey
来源：
FEBS JOURNAL | 2006年 / 273卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
PP614
引用
收藏
页码：242 / 242
页数：1
相关论文
共 50 条
  • [41] A VARIANT FORM OF METACHROMATIC LEUKODYSTROPHY WITHOUT ARYLSULFATASE DEFICIENCY
    HAHN, AF
    GORDON, BA
    FELEKI, V
    HINTON, GG
    GILBERT, JJ
    ANNALS OF NEUROLOGY, 1982, 12 (01) : 33 - 36
  • [42] JUVENILE METACHROMATIC LEUKODYSTROPHY - DEFICIENCY OF AN ARYLSULFATASE-A COMPONENT
    SUZUKI, Y
    MIZUNO, Y
    JOURNAL OF PEDIATRICS, 1974, 85 (06): : 823 - 825
  • [43] Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD) (vol 12, 726, 2019)
    Hettiarachchi, D.
    Dissanayake, V. H. W.
    BMC RESEARCH NOTES, 2020, 13 (01)
  • [44] Safety of arylsulfatase a overexpression for gene therapy of metachromatic leukodystrophy
    Capotondo, A.
    Cesani, M.
    Pepe, S.
    Fasano, S.
    Gregori, S.
    Tononi, L.
    Venneri, M. A.
    Brambilla, R.
    Quattrini, A.
    Ballabio, A.
    Cosma, M. P.
    Naldini, L.
    Biffi, A.
    HUMAN GENE THERAPY, 2007, 18 (09) : 821 - 836
  • [45] ARYLSULFATASE-A PSEUDODEFICIENCY IN FAMILIES AT RISK FOR METACHROMATIC LEUKODYSTROPHY
    COULTERMACKIE, MB
    APPLEGARTH, DA
    TOONE, J
    VALLANCE, H
    RIP, J
    LUDMAN, M
    BEIS, J
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1014 - 1014
  • [46] IDENTIFICATION OF A MUTATION IN THE ARYLSULFATASE-A GENE OF A PATIENT WITH ADULT-TYPE METACHROMATIC LEUKODYSTROPHY
    KONDO, R
    WAKAMATSU, N
    YOSHINO, H
    FUKUHARA, N
    MIYATAKE, T
    TSUJI, S
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 48 (05) : 971 - 978
  • [47] COMPLEX ARYLSULFATASE-A ALLELES CAUSING METACHROMATIC LEUKODYSTROPHY
    KAPPLER, J
    SOMMERLADE, HJ
    VONFIGURA, K
    GIESELMANN, V
    HUMAN MUTATION, 1994, 4 (02) : 119 - 127
  • [48] LOW ARYLSULFATASE A ACTIVITY IN A FAMILY WITHOUT METACHROMATIC LEUKODYSTROPHY
    BUTTERWORTH, J
    BROADHEAD, DM
    KEAY, AJ
    CLINICAL GENETICS, 1978, 14 (04) : 213 - 218
  • [49] ARYLSULFATASE - A DETERMINATION IN PATIENTS WITH CONFIRMED OR SUSPECTED METACHROMATIC LEUKODYSTROPHY
    DIAMENT, A
    CARNEIRO, CRM
    RAW, I
    SCHMIDT, BJ
    CURRENT TRENDS IN INFANT SCREENING, 1989, 848 : 415 - 418
  • [50] Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity
    Stefano Regis
    Fabio Corsolini
    Marina Stroppiano
    Roberto Cusano
    Mirella Filocamo
    Human Genetics, 2002, 110 : 351 - 355
12345