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Congenital Disorders of Ganglioside Biosynthesis.
Li TA, Schnaar RL. Li TA, et al. Prog Mol Biol Transl Sci. 2018;156:63-82. doi: 10.1016/bs.pmbts.2018.01.001. Epub 2018 Mar 22. Prog Mol Biol Transl Sci. 2018. PMID: 29747824 Review.
Mutations in ST3GAL5 (coding GM3 synthase) were discovered as the basis for severe congenital infantile seizures, whereas mutations in B4GALNT1 (coding GM2/GD2 synthase) are the basis of hereditary spastic paraplegia accompanied by intellectual disability. In …
Mutations in ST3GAL5 (coding GM3 synthase) were discovered as the basis for severe congenital infantile seizures, whereas mutations in B4GAL …
Untangling the web: mechanisms underlying ER network formation.
Goyal U, Blackstone C. Goyal U, et al. Biochim Biophys Acta. 2013 Nov;1833(11):2492-8. doi: 10.1016/j.bbamcr.2013.04.009. Epub 2013 Apr 17. Biochim Biophys Acta. 2013. PMID: 23602970 Free PMC article. Review.
Flat ER sheets possess a different complement of proteins such as p180, CLIMP-63 and kinectin implicated in shaping, cisternal stacking and cytoskeletal interactions. ...Finally, many proteins involved in shaping the ER network are mutated in the most common forms of he
Flat ER sheets possess a different complement of proteins such as p180, CLIMP-63 and kinectin implicated in shaping, cisternal stacki …
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia.
Fichera M, Lo Giudice M, Falco M, Sturnio M, Amata S, Calabrese O, Bigoni S, Calzolari E, Neri M. Fichera M, et al. Neurology. 2004 Sep 28;63(6):1108-10. doi: 10.1212/01.wnl.0000138731.60693.d2. Neurology. 2004. PMID: 15452312 Review.
Hereditary spastic paraplegias (HSPs) are characterized by progressive lower extremity spasticity due to an axonal degeneration of motor and sensory neurons. ...
Hereditary spastic paraplegias (HSPs) are characterized by progressive lower extremity spasticity due to an axonal degeneratio