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of 6
pro vyhledávání: '"Anne M. Logan"'
Autor:
Danielle C. Robinson, Anna E. Mammel, Anne M. Logan, Aubree A. Larson, Eric J. Schmidt, Alec F. Condon, Fred L. Robinson
Publikováno v:
ASN Neuro, Vol 10 (2018)
Charcot-Marie-Tooth Disorder Type 4B (CMT4B) is a demyelinating peripheral neuropathy caused by mutations in myotubularin-related (MTMR) proteins 2, 13, or 5 (CMT4B1/2/3), which regulate phosphoinositide turnover and endosomal trafficking. Although m
Externí odkaz:
https://doaj.org/article/a295fcc206e2425bb7f75cb9f195c6ce
Autor:
Anna E. Mammel, Fred L. Robinson, Danielle C. Robinson, Andrea L. Chin, Anne M. Logan, Alec F. Condon
Publikováno v:
Glia. 65:1452-1470
The PI 3-kinase Vps34 (Pik3c3) synthesizes phosphatidylinositol 3-phosphate (PI3P), a lipid critical for both endosomal membrane traffic and macroautophagy. Human genetics have implicated PI3P dysregulation, and endosomal trafficking in general, as a
Autor:
Danielle C. Robinson, Aubree A. Larson, Alec F. Condon, Anna E. Mammel, Anne M. Logan, Fred L. Robinson, Eric J. Schmidt
Publikováno v:
ASN NEURO
ASN Neuro, Vol 10 (2018)
ASN Neuro, Vol 10 (2018)
Charcot-Marie-Tooth Disorder Type 4B (CMT4B) is a demyelinating peripheral neuropathy caused by mutations in myotubularin-related (MTMR) proteins 2, 13, or 5 (CMT4B1/2/3), which regulate phosphoinositide turnover and endosomal trafficking. Although m
Publikováno v:
Human Molecular Genetics. 22:1493-1506
The demyelinating peripheral neuropathy Charcot-Marie-Tooth type 4B (CMT4B) is characterized by axonal degeneration and myelin outfoldings. CMT4B results from mutations in either myotubularin-related protein 2 (MTMR2; CMT4B1) or MTMR13 (CMT4B2), phos
Publikováno v:
PLoS ONE
PLoS ONE, Vol 7, Iss 9, p e43787 (2012)
PLoS ONE, Vol 7, Iss 9, p e43787 (2012)
Melanopsin-expressing intrinsically photosensitive retinal ganglion cells (ipRGCs) are the only functional photoreceptive cells in the eye of newborn mice. Through postnatal day 9, in the absence of functional rods and cones, these ipRGCs mediate a r
Publikováno v:
PLoS ONE, Vol 7, Iss 9, p e43787 (2012)
Melanopsin-expressing intrinsically photosensitive retinal ganglion cells (ipRGCs) are the only functional photoreceptive cells in the eye of newborn mice. Through postnatal day 9, in the absence of functional rods and cones, these ipRGCs mediate a r
Externí odkaz:
https://doaj.org/article/49e9a6970638413d889ea8a282f112a6