Etiology
mutations of GJA12 in the Pelizaeus-Merzbacher-like disease (#15192806#)
Features
hypomyelinating leukodystrophies
Home > E. Pathology by systems > Nervous system
Nervous system
-
Pelizaeus-Merzbacher-like disease
15 June 2004 -
hypomyelinating leukodystrophies
15 June 2004Hypomyelinating leukodystrophies (HMLs) are disorders involving aberrant myelin formation.
The prototype of primary HMLs is the X-linked Pelizaeus-Merzbacher disease (PMD) caused by mutations in PLP1.
Homozygous mutations in GJA12 encoding connexin 47 were found in patients with autosomal-recessive Pelizaeus-Merzbacher-like disease (PMLD).
Exemples
X-linked Pelizaeus-Merzbacher disease (PLP1 mutations)
autosomal-recessive Pelizaeus-Merzbacher-like disease (PMLD) (GJA12)
References (...) -
giant axonal neuropathy
18 March 2004References
Mahadevan A, Santosh V, Gayatri N, Ratnavalli E, NandaGopal R, Vasanth A, Roy AK, Shankar SK. Infantile neuroaxonal dystrophy and giant axonal neuropathy—overlap diseases of neuronal cytoskeletal elements in childhood? Clin Neuropathol. 2000 Sep-Oct;19(5):221-9. PMID: #11048747#
Ouvrier RA. Giant axonal neuropathy. A review. Brain Dev. 1989;11(4):207-14. PMID: (...) -
synapse
4 December 2003synapses; synaptic junction WKP
See also
synaptogenesis
References
Takeichi M, Abe K. Synaptic contact dynamics controlled by cadherin and catenins. Trends Cell Biol. 2005 Apr;15(4):216-21. PMID: #15817378#
Kim E, Sheng M. PDZ domain proteins of synapses. Nat Rev Neurosci. 2004 Oct;5(10):771-81. PMID: #15378037#
Matteoli M, Coco S, Schenk U, Verderio C. Vesicle turnover in developing neurons: how to build a presynaptic terminal. Trends Cell Biol. 2004 Mar;14(3):133-40. PMID: (...) -
synaptic plasticity
4 December 2003References
Turrigiano GG. More than a sidekick: glia and homeostatic synaptic plasticity. Trends Mol Med. 2006 Oct;12(10):458-60. PMID: #16931159#
Collingridge GL, Isaac JT, Wang YT. Receptor trafficking and synaptic plasticity. Nat Rev Neurosci. 2004 Dec;5(12):952-62. PMID: #15550950#
Blitz DM, Foster KA, Regehr WG. Short-term synaptic plasticity: a comparison of two synapses. Nat Rev Neurosci. 2004 Aug;5(8):630-40. PMID: #15263893#
Winder DG, Egli RE, Schramm NL, Matthews RT. (...) -
axons
2 December 2003See also
axonal guidance
axonal transport
References
Baas PW, Ahmad FJ. Force generation by cytoskeletal motor proteins as a regulator of axonal elongation and retraction. Trends Cell Biol. 2001 Jun;11(6):244-9. PMID: #11356360# -
mechanosensation
2 December 2003mechanotransduction
-
Neuroblasts
25 November 2003asymmetric division
In the embryonic central nervous system of the fruit fly Drosophila, most neurons and glial cells are generated by asymmetric division of neural stem cells called neuroblasts.
Several genes have been identified that are required for the establishment of neuroblast polarity, for the asymmetric segregation of cell fate determinants and for the proper orientation and geometry of the mitotic spindle.
See also
tumoral neuoblasts immature neuroblasts differentiating (...) -
neuronal connectivity
24 November 2003synaptic plasticity
-
myelin disorders
21 November 2003References
Yool DA, Edgar JM, Montague P, Malcolm S. The proteolipid protein gene and myelin disorders in man and animal models. Hum Mol Genet. 2000 Apr 12;9(6):987-92. PMID: #10767322#