Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

被引：0
|
作者：
Han-Xiang Deng
Christopher J Klein
Jianhua Yan
Yong Shi
Yanhong Wu
Faisal Fecto
Hau-Jie Yau
Yi Yang
Hong Zhai
Nailah Siddique
E Tessa Hedley-Whyte
Robert DeLong
Marco Martina
Peter J Dyck
Teepu Siddique
机构：
[1] Northwestern University Feinberg School of Medicine,Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences
[2] Mayo Clinic Foundation,Department of Neurology, Division of Peripheral Nerve Diseases
[3] Mayo Clinic Foundation,Department of Laboratory Medicine and Pathology
[4] Northwestern University Feinberg School of Medicine,Interdepartmental Neuroscience Program
[5] Northwestern University Feinberg School of Medicine,Department of Physiology
[6] Massachusetts General Hospital,Department of Pathology
[7] Harvard Medical School,Department of Pediatrics
[8] Duke University Medical School,undefined
来源：
Nature Genetics | 2010年 / 42卷
关键词：
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Han-Xiang Deng, Teepu Siddique and colleagues report that scapuloperoneal spinal muscular atrophy and hereditary motor and sensory neuropathy type IIC are allelic disorders caused by mutations in TRPV4. Their functional studies indicate that the mutations result in increased calcium channel activity.
引用
收藏
页码：165 / 169
页数：4
相关论文
共 32 条
  • [21] Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
    Auer-Grumbach, Michaela
    Olschewski, Andrea
    Papic, Lea
    Kremer, Hannie
    McEntagart, Meriel E.
    Uhrig, Sabine
    Fischer, Carina
    Froehlich, Eleonore
    Balint, Zoltan
    Tang, Bi
    Strohmaier, Heimo
    Lochmueller, Hanns
    Schlotter-Weigel, Beate
    Senderek, Jan
    Krebs, Angelika
    Dick, Katherine J.
    Petty, Richard
    Longman, Cheryl
    Anderson, Neil E.
    Padberg, George W.
    Schelhaas, Helenius J.
    van Ravenswaaij-Arts, Conny M. A.
    Pieber, Thomas R.
    Crosby, Andrew H.
    Guelly, Christian
    NATURE GENETICS, 2010, 42 (02) : 160 - U96
  • [22] Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
    Michaela Auer-Grumbach
    Andrea Olschewski
    Lea Papić
    Hannie Kremer
    Meriel E McEntagart
    Sabine Uhrig
    Carina Fischer
    Eleonore Fröhlich
    Zoltán Bálint
    Bi Tang
    Heimo Strohmaier
    Hanns Lochmüller
    Beate Schlotter-Weigel
    Jan Senderek
    Angelika Krebs
    Katherine J Dick
    Richard Petty
    Cheryl Longman
    Neil E Anderson
    George W Padberg
    Helenius J Schelhaas
    Conny M A van Ravenswaaij-Arts
    Thomas R Pieber
    Andrew H Crosby
    Christian Guelly
    Nature Genetics, 2010, 42 : 160 - 164
  • [23] Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation
    Koutsis, Georgios
    Lynch, David
    Manone, Andreea
    Karadima, Georgia
    Reilly, Mary M.
    Houlden, Henry
    Panas, Marios
    JOURNAL OF NEUROLOGY, 2015, 262 (08) : 1972 - 1975
  • [24] Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation
    Georgios Koutsis
    David Lynch
    Andreea Manone
    Georgia Karadima
    Mary M. Reilly
    Henry Houlden
    Marios Panas
    Journal of Neurology, 2015, 262 : 1972 - 1975
  • [25] Homozygous TRPV4 Mutation Broadens the Phenotypic Spectrum of Congenital Spinal Muscular Atrophy and Arthrogryposis: A Case Report
    Lugo, Elyette
    Graulau, Eric
    Cortes, Edwardo Ramos
    Carlo, Simon
    Ramirez, Norman
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2023, 15 (08)
  • [26] TRPV4-MEDIATED DISRUPTION OF CALCIUM SIGNALING AND MITOCHONDRIAL AXONAL TRANSPORT IN A DROSOPHILA MODEL OF CMT2C
    Woolums, B. M.
    Tabuchi, M.
    Sung, H.
    Sullivan, J. M.
    Mamah, C.
    Yang, M.
    Blum, I. D.
    Wu, M. N.
    Sumner, C. J.
    Lloyd, T. E.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2017, 22 (03) : 411 - 411
  • [27] Novel TRPV4 mutation in a large Chinese family with congenital distal spinal muscular atrophy, skeletal dysplasia and scaly skin
    Liu, Ying
    Yan, Xuejing
    Chen, Yongzhen
    He, Zhiyi
    Ouyang, Yi
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2020, 419
  • [28] Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene
    Vill, Katharina
    Kuhn, Marius
    Glaeser, Dieter
    Walter, Maggie C.
    Mueller-Felber, Wolfgang
    NEUROPEDIATRICS, 2015, 46 (04) : 282 - 286
  • [29] TRPV4 MUTATION IN A FAMILY RELATED TO A MILD PHENOTYPE OF DISTAL MOTOR HEREDITARY NEUROPATHY CMT-2C
    Devigili, G.
    Mandich, P.
    Moro, F.
    Santorelli, F. M.
    Rinaldo, S.
    Lettieri, C.
    Bellone, E.
    Geroldi, A.
    Eleopra, R.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2017, 22 : S15 - S16
  • [30] X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene
    Jedrzejowska, Maria
    Jakubowska-Pietkiewicz, Elzbieta
    Kostera-Pruszczyk, Anna
    NEUROMUSCULAR DISORDERS, 2015, 25 (08) : 661 - 666
1234