Page 195 - Read Online

Saneto. J Transl Genet Genom 2020;4:384-428 I http://dx.doi.org/10.20517/jtgg.2020.40 Page 423

2015;16:345-59.
206. Baker II PR, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, et al. Variant non-ketotic hyperglycinemia is caused by mutations
in LIAS, BOLA3 and the novel gene GLRX5. Brain 2014;137:366-79.
207. Kure S, Tada K, Narisawa K. Nonketotic hyperglycinemia: biochemical, molecular, and neurological aspects. Jpn J Hum Genet
1997;42:13-22.
208. Swanson MA, Coughlin CR, Scharer GH, Szerlong HJ, Bjoraker KJ, et al. Biochemical and molecular predictors for prognosis in
nonketotic hyperglycinemia. Ann Neurol 2015;78:606-18.
209. Twig G, Elorza A, Molina A, Mohamed H, Wikstrom J, et al. Fission and selective fusion govern mitochondrial segregation and
elimination by autophagy. EMBO J 2008;27;433-46.
210. Shi G, McQuibban GA. The mitochondrial rhomboid protease PARL is regulated by PDK2 to integrate mitochondrial quality control and
metabolism. Cell Reports 2017;18:1458-72.
211. McQuibban GA, Bulman DE. The PARLance of Parkinson disease. Autophagy 2011;7:790-2.
212. Singh R, Jamdar SN, Goyal VD, Kumar A, Ghosh B, et al. Structure of the human aminopeptidase XPNPEP3 and comparison of its in
vitro activity with Icp55 orthologs: insights into diverse cellular processes. J Biol Chem 2017;292;10035-47.
213. O’Toole JF, Liu Y, Davis EE, Westlake J, Attanasio M, et al. Individuals with mutations in XPNPEP3, which encodes a mitochondrial
protein, develop a nephronophthisis-like nephropathy. J Clin Invest 2010;120:791-802.
214. Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in
paraplegin, a nuclear - encoded mitochondrial metalloprotease. Cell 1998;93:973-83.
215. Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, et al. Mutations in the SPG7 gene cause chronic progressive external
ophthalmoplegia through disordered mitochondrial DNA maintenance. Brain 2014;137:1323-36.
216. Vogtle F-N, Brandl B, Larson A, Pendziwat M, Friederich MW, et al. Mutations in PMPCB encoding the catalytic subunit of the
mitochondrial presequence protease cause neurodegeneration in early childhood. Am J Hum Genet 2018;102:557-73.
217. Peter B, Waddington CL, Olahova M, Sommerville EW, Hopton S, et al. Defective mitochondrial protease LonP1 can cause classical
mitochondrial disease. Hum Mol Genet 2018;27:1743-53.
218. Strauss KA, Jinks RN, Puffenberger EG, Venkatesch S, Singh K, et al. CODAS syndrome is associated with mutations of LONP1,
encoding mitochondrial AAA+ Lon Protease. Am J Hum Genet 2015;96:121-35.
219. Bertelsen B, Melchior L, Jensen LR, Groth C, Glenthoj B, et al. Intragenic deletions affective two alterative transcripts of the IMMP2L
gene in patients with Tourette syndrome. Eur J Hum Genet 2014;22:1283-9.
220. Unal Gulsuner H, Gulsuner S, Mercan FN, Onat OE, Walsh T, et al. Mitochondrial serine protease HTRA2 p.G199S in a kindred with
essential tremor and Parkinson disease. Proc Natl Acad Sci USA 2014;111:18285-90.
221. Olahova M, Thompson K, Hardy SA, Barbosa IA, Besse A, et al. Pathological variants in HTRA2 cause an early-onset mitochondrial
syndrome associated with 3-methylglutaconic aciduria. J Inherit Metab Dis 2017;40:121-30.
222. Jenkinson EM, Rehman AU, Walsh T, Clayton-Smith J, Lee K, et al. Perrault syndrome is caused by recessive mutation in CLPP,
encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet 2013;92:605-13.
223. Cesnekova J, Rodinova M, Hansikova H, Zeman J, Stiburek L. Loss of mitochondrial AAA proteases AFG3L2 and YME1L impairs
mitochondrial structure and respiratory chain biogenesis. Int J Mol Sci 2018;19:3930.
224. Anand R, Wai T, Baker JM, Kladt N, Schauss AC, et al. The i-AAA protease YME1L and OMA1 cleave OPA1 to balance mitochondrial
fusion and fission. J Cell Biol 2014;204:919-29.
225. Patron M, Sprenger HG, Langer T. m-AAA proteases, mitochondrial calcium homeostasis and neurodegeneration. Cell Res 2018;28:296-
306.
226. Gilquin B, Taillebourg E, Cherradi N, Hubstenberger A, Gay O, et al. The AAA ATPase ATAD3A controls mitochondrial dynamics at the
+
interface of the inner and outer membranes. Mol Cell Biol 2010;30:1984-96.
227. Cooper HM, Yang Y, Ylikallio E, Khairullin R, Woldegebriel R, et al. ATPase-deficient mitochondrial inner membrane protein ATAD3A
disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia. Hum Mol Genet 2017;26:1432-43.
228. Harel T, Hee Yoon W, Garone C, Gu S, Coban-Akdemir Z, et al. Recurrent de novo and biallelic variation of ATAD3A, encoding a
mitochondrial membrane protein, results in distinct neurological syndromes. Am J Hum Genet 2016;99:831-45.
229. Rouault TA, Maio N. Biogenesis and functions of mammalian iron-sulfur proteins in the regulation of iron homeostasis and pivotal
metabolic pathways. J Biol Chem 2017;292:12744-53.
230. Braymer JJ, Lill R. Iron sulfur cluster biogenesis and trafficking in mitochondria. J Biol Chem 2017;292;12754-63.
231. Rouault TA. The indispensable role of mammalian iron sulfur proteins in function and regulation of multiple diverse metabolic pathways.
Biometals 2019;32:343-53.
232. Costain G, Ghosh MC, Maio N, Carnevale A, Si YC, et al. Absence of iron-responsive element-binding protein 2 causes a novel
neurodegenerative syndrome. Brain 2019;42:1195-202.
233. Shi Y, Ghosh M, Kovtunovych G, Crooks DR, Rouault TA. Both human ferredoxins 1 and 2 and ferredoxin reductase are important for
iron-sulfur cluster biogenesis. Biochim Biophys Acta 2012;1823:484-92.
234. Peng Y, Shinde DN, Valencia CA, Mo JS, Rosenfeld J, et al. Biallelic mutations in the ferredoxin reductase gene cause novel
mitochondriopathy with optic atrophy. Hum Mol Genet 2017;26:4937-50.
235. Paul A, Drecourt A, Petit F, Deguine DD, Vasnier C, et al. FDXR mutation cause sensorial neuropathies and expand the spectrum of
mitochondrial Fe-S-synthesis diseases. Am J Hum Genet 2017;101:630-7.
236. Gurgel-Giannetti J, Lynch DS, Brandao de Paiva AR, Lucato LT, Yamamoto G, et al. A novel complex neurological phenotype due to a