Mitochondrial Function in 22q11 Deletion Syndrome

被引:4
|
作者
Warren, Emily B. [1 ,2 ,3 ]
Morrow, Eric M. [1 ,2 ,3 ,4 ]
机构
[1] Brown Univ, Dept Mol Biol Cell Biol & Biochem, Providence, RI 02912 USA
[2] Brown Univ, Ctr Translat Neurosci, Robert J & Nancy D Carney Inst Brain Sci, Providence, RI 02912 USA
[3] Brown Univ, Brown Inst Translat Sci, Providence, RI 02912 USA
[4] Brown Univ, Hassenfeld Child Hlth Innovat Inst, Providence, RI 02912 USA
关键词
D O I
10.1016/j.neuron.2019.05.052
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
Copy number variant disorders arise from altering the dosage of multiple contiguous genes. In this issue of Neuron, Fernandez et al. (2019) identify haploinsufficiency of mitochondrial Txnrd2 as an important contributor to the hypo-cortico-cortical connectivity of 22q11 deletion syndrome.
引用
收藏
页码:1089 / 1091
页数:3
相关论文
共 50 条
  • [1] The 22q11 Deletion Syndrome
    Schaefer, Amelie
    Bierstedt, Elisa
    Wegener, Carla
    SPRACHE-STIMME-GEHOR, 2022, 46 (04): : 172 - 172
  • [2] \ 22q11 Deletion Syndrome
    Lessig, Megan K.
    JOURNAL OF PEDIATRIC NURSING-NURSING CARE OF CHILDREN & FAMILIES, 2015, 30 (02): : 431 - 432
  • [3] Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes
    Maynard, T. M.
    Meechan, D. W.
    Dudevoir, M. L.
    Gopalakrishna, D.
    Peters, A. Z.
    Heindel, C. C.
    Sugimoto, T. J.
    Wu, Y.
    Lieberman, J. A.
    LaMantia, A. -S.
    MOLECULAR AND CELLULAR NEUROSCIENCE, 2008, 39 (03) : 439 - 451
  • [4] Behavioral difficulties in children with 22q11 deletion syndrome (22q11 DS): Associations with executive function
    Kiley-Brabeck, K
    Sobin, C
    CLINICAL NEUROPSYCHOLOGIST, 2005, 19 (3-4) : 533 - 533
  • [5] Scoliosis in the 22q11 Deletion Syndrome
    Colo, D.
    Van Weelden, C.
    Kruyt, M.
    Castelein, R.
    RESEARCH INTO SPINAL DEFORMITIES 8, 2012, 176 : 445 - 445
  • [6] Hypoparathyroidism and 22q11 deletion syndrome
    Taylor, SC
    Morris, G
    Wilson, D
    Davies, SJ
    Gregory, JW
    ARCHIVES OF DISEASE IN CHILDHOOD, 2003, 88 (06) : 520 - 522
  • [7] Deletion 22q11
    Miller, Simone
    Ptok, Martin
    SPRACHE-STIMME-GEHOR, 2020, 44 (01): : 58 - 59
  • [8] Molecular Mechanisms in 22q11 Deletion Syndrome
    Williams, Nigel M.
    SCHIZOPHRENIA BULLETIN, 2011, 37 (05) : 882 - 889
  • [9] Growth charts for 22q11 deletion syndrome
    Tarquinio, Daniel C.
    Jones, Marilyn C.
    Jones, Kenneth Lyons
    Bird, Lynne M.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (11) : 2672 - 2681
  • [10] Mouse models of 22q11 deletion syndrome
    Paylor, Richard
    Lindsay, Elizabeth
    BIOLOGICAL PSYCHIATRY, 2006, 59 (12) : 1172 - 1179