Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations

被引:0
|
作者
Richard Bergholz
Alfried Kohlschütter
Angela Schulz
Waltraud Hubert
Klaus Rüther
机构
[1] Charité – Universitätsmedizin Berlin,Department of Ophthalmology
[2] University Medical Center Eppendorf,Children’s Hospital
[3] Sankt Gertrauden-Krankenhaus,Department of Ophthalmology
[4] Charité Augenklinik Campus Virchow-Klinikum,undefined
关键词
Neuronal ceroid lipofuscinosis; CLN3; Batten disease; Electroretinography; Optical coherence tomography;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:1245 / 1250
页数:5
相关论文
共 50 条
  • [41] Continued retinal function despite NCL pathology in a Cln3 knockout mouse model of juvenile neuronal ceroid lipofuscinosis (Batten disease)
    Seigel, GM
    Lotery, A
    Kummer, A
    Turmaine, M
    Davidson, B
    Wagner, J
    Mitchison, HM
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2002, 43 : U634 - U634
  • [42] BATTEN DISEASE (CEROID - LIPOFUSCINOSIS NEURONAL, JUVENILE TYPE) LOCUS (CLN3) MAPS TO HUMAN CHROMOSOME-16P12
    CALLEN, DF
    SUTHERLAND, GR
    JARVELA, I
    PELTONEN, L
    MITCHISON, H
    MCKAY, T
    GARDINER, RM
    CYTOGENETICS AND CELL GENETICS, 1991, 58 (3-4): : 1999 - 1999
  • [43] Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3
    Seifert C.
    Storch S.
    Bähring R.
    Bähring, Robert (r.baehring@uke.de), 1600, American Society for Biochemistry and Molecular Biology Inc. (295): : 12099 - 12110
  • [44] Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway
    Lojewski, Xenia
    Staropoli, John F.
    Biswas-Legrand, Sunita
    Simas, Alexandra M.
    Haliw, Larissa
    Selig, Martin K.
    Coppel, Scott H.
    Goss, Kendrick A.
    Petcherski, Anton
    Chandrachud, Uma
    Sheridan, Steven D.
    Lucente, Diane
    Sims, Katherine B.
    Gusella, James F.
    Sondhi, Dolan
    Crystal, Ronald G.
    Reinhardt, Peter
    Sterneckert, Jared
    Schoeler, Hans
    Haggarty, Stephen J.
    Storch, Alexander
    Hermann, Andreas
    Cotman, Susan L.
    HUMAN MOLECULAR GENETICS, 2014, 23 (08) : 2005 - 2022
  • [45] Radiation hybrid mapping of three candidate genes for bovine neuronal ceroid lipofuscinosis:: CLN3, CLN5 and CLN6
    Houweling, P. J.
    Cavanagh, J. A. L.
    Tammen, I.
    CYTOGENETIC AND GENOME RESEARCH, 2006, 115 (01) : 5 - 6
  • [46] Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3
    Seifert, Carolin
    Storch, Stephan
    Baehring, Robert
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2020, 295 (34) : 12099 - 12110
  • [47] Juvenile neuronal ceroid lipofuscinosis
    Gulati S.
    Maheshwari R.
    Kabra R.
    Verma I.C.
    Kalra V.
    The Indian Journal of Pediatrics, 2000, 67 (9) : 689 - 691
  • [48] Molecular basis of the neuronal ceroid lipofuscinoses:: Mutations in CLN1, CLN2, CLN3, and CLN5
    Mole, SE
    Mitchison, HM
    Munroe, PB
    HUMAN MUTATION, 1999, 14 (03) : 199 - 215
  • [49] Retinal pigment epithelium atrophy in the Cln3Δex7/8 knock-in mouse model of juvenile neuronal ceroid lipofuscinosis
    Mohan, Kabhilan
    Zhong, Yu
    Liu, Jinpeng
    Al-Attar, Ahmad
    Liu, Huijuan
    Jung, Kyung
    Dow, Morgan
    Liu, Jinze
    Fan, Teresa
    Wang, Qing Jun
    Kleinman, Mark Ellsworth
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (12)
  • [50] Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis
    Wisniewski, KE
    Zhong, N
    Kaczmarski, W
    Kaczmarski, A
    Kida, E
    Brown, WT
    Schwarz, KO
    Lazzarini, AM
    Rubin, AJ
    Stenroos, ES
    Johnson, WG
    Wisniewski, TM
    ANNALS OF NEUROLOGY, 1998, 43 (01) : 106 - 110