Rab18 Collaborates with Rab7 to Modulate Lysosomal and Autophagy Activities in the Nervous System: an Overlapping Mechanism for Warburg Micro Syndrome and Charcot-Marie-Tooth Neuropathy Type 2B

Author:

Nian Fang-Shin,Li Lei-Li,Cheng Chih-Ya,Wu Pei-Chun,Lin You-Tai,Tang Cheng-Yung,Ren Bo-Shiun,Tai Chin-Yin,Fann Ming-Ji,Kao Lung-Sen,Hong Chen-Jee,Tsai Jin-WuORCID

Funder

Ministry of Science and Technology, Taiwan

Publisher

Springer Science and Business Media LLC

Subject

Neuroscience (miscellaneous),Cellular and Molecular Neuroscience,Neurology

Reference64 articles.

1. Warburg M, Sjo O, Fledelius HC, Pedersen SA (1993) Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome. Am J Dis Child 147(12):1309–1312

2. Megarbane A, Choueiri R, Bleik J, Mezzina M, Caillaud C (1999) Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome? J Med Genet 36(8):637–640

3. Ainsworth JR, Morton JE, Good P, Woods CG, George ND, Shield JP, Bradbury J, Henderson MJ et al (2001) Micro syndrome in Muslim Pakistan children. Ophthalmology 108(3):491–497

4. Graham JM Jr, Hennekam R, Dobyns WB, Roeder E, Busch D (2004) MICRO syndrome: an entity distinct from COFS syndrome. Am J Med Genet A 128a(3):235–245. https://doi.org/10.1002/ajmg.a.30060

5. Rodriguez Criado G, Rufo M, Gomez de Terreros I (1999) A second family with micro syndrome. Clin Dysmorphol 8(4):241–245

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