Identification of proteins potentially involved in the formation of Lafora bodies, a hallmark of Lafora disease

被引：0
|
作者：
Elham Schokraie
Oliver Kötting
Matthew S Gentry
机构：
[1] Plant Biochemistry,Department of Biology
[2] ETH Zurich,Department of Molecular and Cellular Biochemistry and Center for Structural Biology, College of Medicine
[3] University of Kentucky,undefined
来源：
Molecular Neurodegeneration | / 8卷 / Suppl 1期
关键词：
Proteomic Analysis; Tryptic Digestion; Interesting Candidate; Skeletal Muscle Tissue; Glycogen Metabolism;
D O I：
10.1186/1750-1326-8-S1-P36
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [21] Identification of a new disease gene causing Lafora progressive myoclonus epilepsy.
    Chan, EM
    Young, EJ
    Ianzano, L
    Munteanu-Oprea, I
    Zhao, X
    Christopoulos, CC
    Avanzini, G
    Elia, M
    Ackerley, CA
    Jovic, NJ
    Bohlega, S
    Andermann, E
    Rouleau, GA
    Delgado-Escueta, AV
    Minassian, BA
    Scherer, SW
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 191 - 191
  • [22] Identification of biallelic intronic EPM2A mutations in a Lafora disease kindred
    Duan, Ruo-Nan
    Liu, Jin-De
    Zhao, Xiu-He
    Song, Cheng-Yuan
    JOURNAL OF HUMAN GENETICS, 2025, 70 (03) : 167 - 170
  • [23] Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease
    Israelian, Lori
    Nitschke, Silvia
    Wang, Peixiang
    Zhao, Xiaochu
    Perri, Ami M.
    Lee, Jennifer P. Y.
    Verhalen, Brandy
    Nitschke, Felix
    Minassian, Berge A.
    JOURNAL OF NEUROCHEMISTRY, 2021, 157 (06) : 1897 - 1910
  • [24] COMPARATIVE-STUDY OF INTRANEURONAL POLYGLUCOSAN BODIES IN BRAINS FROM PATIENTS WITH LAFORA DISEASE AND AGED DOGS
    YAMANAMI, S
    ISHIHARA, T
    TAKAHASHI, M
    UCHINO, F
    ACTA PATHOLOGICA JAPONICA, 1992, 42 (11): : 787 - 792
  • [25] Laforin Prevents Stress-Induced Polyglucosan Body Formation and Lafora Disease Progression in Neurons
    Wang, Yin
    Ma, Keli
    Wang, Peixiang
    Baba, Otto
    Zhang, Helen
    Parent, Jack M.
    Zheng, Pan
    Liu, Yang
    Minassian, Berge A.
    Liu, Yan
    MOLECULAR NEUROBIOLOGY, 2013, 48 (01) : 49 - 61
  • [26] Laforin Prevents Stress-Induced Polyglucosan Body Formation and Lafora Disease Progression in Neurons
    Yin Wang
    Keli Ma
    Peixiang Wang
    Otto Baba
    Helen Zhang
    Jack M. Parent
    Pan Zheng
    Yang Liu
    Berge A. Minassian
    Yan Liu
    Molecular Neurobiology, 2013, 48 : 49 - 61
  • [27] A CASE OF LAFORAS DISEASE INVOLVING VISUAL PATHWAYS - LOCALIZATION OF UBIQUITIN CONJUGATES IN LAFORA BODIES BY LIGHT AND ULTRASTRUCTURAL IMMUNOCYTOCHEMISTRY
    HESSLER, RB
    KATSETOS, CD
    REIDY, J
    HAAS, A
    BAGDORF, R
    DREIFUSS, F
    VANDENBERG, SR
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1990, 49 (03): : 263 - 263
  • [28] Accumulation of Laforin and Other Related Proteins in Canine Lafora Disease With EPM2B Repeat Expansion
    Chambers, James K.
    Thongtharb, Atigan
    Shiga, Takanori
    Azakami, Daigo
    Saito, Miyoko
    Sato, Masumi
    Morozumi, Motoji
    Nakayama, Hiroyuki
    Uchida, Kazuyuki
    VETERINARY PATHOLOGY, 2018, 55 (04) : 543 - 551
  • [29] Laforin, a Dual Specificity Phosphatase Involved in Lafora Disease, Is Present Mainly as Monomeric Form with Full Phosphatase Activity
    Dukhande, Vikas V.
    Rogers, Devin M.
    Roma-Mateo, Carlos
    Donderis, Jordi
    Marina, Alberto
    Taylor, Adam O.
    Sanz, Pascual
    Gentry, Matthew S.
    PLOS ONE, 2011, 6 (08):
  • [30] Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease
    Mittal, Shuchi
    Upadhyay, Mamta
    Singh, Pankaj Kumar
    Parihar, Rashmi
    Ganesh, Subramaniam
    JOURNAL OF BIOSCIENCES, 2015, 40 (05) : 863 - 871
12345