Home LiteratureArticle Details
PMID: 10848490 Published · ppublish English Comment Editorial

Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L)

American journal of human genetics ·Vol. 67 ·No. 1 ·2000-07-00 ·Pages 8-10

Lupski JR

Abstract

暂无摘要

MeSH Terms
Axons/metabolism,pathology Charcot-Marie-Tooth Disease/genetics,metabolism,pathology Chromosome Mapping Chromosomes, Human, Pair 8/genetics Gene Dosage Genetic Linkage/genetics Humans Mutation/genetics Neurofilament Proteins/genetics,metabolism
Chemicals
Neurofilament Proteins neurofilament protein L
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Lupski J R
References (27)
27 references, click to expand
  1. Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1.
    Neuromuscul Disord. 1999 Oct;9(6-7):368-71 PMID: 10545038
  2. Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.
    Pediatr Res. 1999 Feb;45(2):159-65 PMID: 10022584
  3. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
    Am J Hum Genet. 2000 Jul;67(1):37-46 PMID: 10841809
  4. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.
    Am J Hum Genet. 2000 Jul;67(1):47-58 PMID: 10831399
  5. Self-assembly in Vitro of the 68,000 molecular weight component of the mammalian neurofilament triplet proteins into intermediate-sized filaments.
    J Mol Biol. 1981 Sep 25;151(3):565-71 PMID: 6802980
  6. Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells.
    Cell. 1992 Feb 7;68(3):451-63 PMID: 1371237
  7. Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity.
    Genomics. 1993 Aug;17(2):370-5 PMID: 8406488
  8. A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease.
    Neuron. 1994 Oct;13(4):975-88 PMID: 7946341
  9. Altered neurofilament phosphorylation and beta tubulin isotypes in Charcot-Marie-Tooth disease type 1.
    Neurology. 1994 Dec;44(12):2383-7 PMID: 7991130
  10. Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.
    Am J Hum Genet. 1995 Oct;57(4):853-8 PMID: 7573046
  11. Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy.
    Muscle Nerve. 1996 Jan;19(1):74-8 PMID: 8538673
  12. Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms.
    Annu Rev Med. 1999;50:263-75 PMID: 10073277
  13. Aberrant neurofilament phosphorylation in sensory neurons of rats with diabetic neuropathy.
    Diabetes. 1999 Apr;48(4):881-9 PMID: 10102707
  14. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
    Nat Genet. 2000 May;25(1):17-9 PMID: 10802647
  15. Neurofilament functions in health and disease.
    Curr Opin Neurobiol. 1999 Oct;9(5):554-60 PMID: 10508735
  16. Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13.
    Neurology. 1996 May;46(5):1311-8 PMID: 8628473
  17. Mechanisms of selective motor neuron death in transgenic mouse models of motor neuron disease.
    Neurology. 1996 Oct;47(4 Suppl 2):S54-61; discussion S61-2 PMID: 8858052
  18. Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).
    Hum Mol Genet. 1996 Sep;5(9):1373-5 PMID: 8872480
  19. Neurofilament triplet protein interactions: evidence for the preferred formation of NF-L-containing dimers and a putative function for the end domains.
    J Cell Sci. 1996 Oct;109 ( Pt 10):2493-8 PMID: 8923210
  20. Aberrant stress-induced phosphorylation of perikaryal neurofilaments.
    J Biol Chem. 1996 Nov 29;271(48):30404-9 PMID: 8940004
  21. A new type of hereditary motor and sensory neuropathy linked to chromosome 3.
    Ann Neurol. 1997 Jun;41(6):771-80 PMID: 9189038
  22. Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family.
    J Neurol Neurosurg Psychiatry. 1997 Jun;62(6):570-3 PMID: 9219740
  23. Myelin-associated glycoprotein is a myelin signal that modulates the caliber of myelinated axons.
    J Neurosci. 1998 Mar 15;18(6):1953-62 PMID: 9482781
  24. Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study.
    Neurology. 1998 Apr;50(4):1061-7 PMID: 9566395
  25. Mitogen-activated protein kinases (Erk1,2) phosphorylate Lys-Ser-Pro (KSP) repeats in neurofilament proteins NF-H and NF-M.
    J Neurosci. 1998 Jun 1;18(11):4008-21 PMID: 9592082
  26. Axonal pathology in demyelinating diseases.
    Ann Neurol. 1999 Jan;45(1):6-7 PMID: 9894870
  27. Effects of PMP22 duplication and deletions on the axonal cytoskeleton.
    Ann Neurol. 1999 Jan;45(1):16-24 PMID: 9894872
Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
DOI
10.1086/302986
Published
2000-07-00
Epub
2000-00-07
Pages
8-10
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1287104
Subset
IM
Corrections
CommentOn
PMID: 10841809
External Links
PubMed source DOI: 10.1086/302986 PMC Full Text View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: [email protected]

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2