T. G. Barrett, S. E. Bundey, A. R. Fielder, and P. A. Good, Optic atrophy in Wolfram (DIDMOAD) syndrome, Eye, vol.11, p.9537152, 1997.

T. Hershey, H. M. Lugar, J. S. Shimony, J. Rutlin, J. M. Koller et al., Early brain vulnerability in Wolfram syndrome, PLoS ONE, vol.7, p.22792385, 2012.

A. A. Osman, M. Saito, C. Makepeace, M. A. Permutt, P. Schlesinger et al., Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium, J Biol Chem, vol.278, p.14527944, 2003.

D. Takei, H. Ishihara, S. Yamaguchi, T. Yamada, A. Tamura et al., WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum, FEBS Lett, vol.580, p.16989814, 2006.

S. G. Fonseca, M. Fukuma, K. L. Lipson, L. X. Nguyen, J. R. Allen et al., WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells, J Biol Chem, vol.280, p.16195229, 2005.

T. Kanki and D. J. Klionsky, Mitochondrial abnormalities drive cell death in Wolfram syndrome 2, Cell Res, vol.19, pp.922-923, 2009.

F. N. Ross-cisneros, B. X. Pan, R. A. Silva, N. R. Miller, T. A. Albini et al., Optic nerve histopathology in a case of Wolfram Syndrome: a mitochondrial pattern of axonal loss, Mitochondrion, vol.13, pp.841-845, 2013.

Y. F. Chen, C. H. Kao, Y. T. Chen, C. H. Wang, C. Y. Wu et al., Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice, Genes Dev, vol.15, pp.1183-1194, 2009.

S. E. Wiley, A. Y. Andreyev, A. S. Divakaruni, R. Karisch, G. Perkins et al., Wolfram Syndrome protein, Miner1, regulates sulphydryl redox status, the unfolded protein response, and Ca2+ homeostasis, EMBO Mol Med, vol.5, p.23703906, 2013.

S. Win, T. A. Than, J. C. Fernandez-checa, and N. Kaplowitz, JNK interaction with Sab mediates ER stress induced inhibition of mitochondrial respiration and cell death, Cell Death Dis, vol.5, 2014.

L. Shang, H. Hua, K. Foo, H. Martinez, K. Watanabe et al., ?-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome, Diabetes, vol.63, p.24227685, 2014.

D. Bonnet-wersinger, N. Benkafadar, J. Jagodzinska, C. Hamel, Y. Tanizawa et al., Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice, PLoS ONE, vol.9, p.24823368, 2014.

T. Higo, K. Hamada, C. Hisatsune, N. Nukina, T. Hashikawa et al., Mechanism of ER stressinduced brain damage by IP(3) receptor, Neuron, vol.68, pp.865-878, 2010.

M. J. Berridge, Inositol trisphosphate and calcium signalling mechanisms, Biochim Biophys Acta, vol.1793, pp.933-940, 2009.

S. G. Fonseca, S. Ishigaki, C. M. Oslowski, S. Lu, K. L. Lipson et al., Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells, J Clin Invest, vol.120, pp.744-755, 2010.

, Role of Mitochondrial Dynamics in Neuronal Development: Mechanism for Wolfram Syndrome, PLOS Biology, 2016.

S. Lu, K. Kanekura, T. Hara, J. Mahadevan, L. D. Spears et al., A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome, Proc Natl Acad Sci USA, vol.111, p.25422446, 2014.

X. Wang and T. L. Schwarz, The mechanism of Ca2+ -dependent regulation of kinesin-mediated mitochondrial motility, Cell, vol.136, pp.163-174, 2009.

M. E. Gegg, J. M. Cooper, K. Y. Chau, M. Rojo, A. H. Schapira et al., Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy, Hum Mol Genet, vol.9, pp.4861-4870, 2010.

E. Ziviani, R. N. Tao, and A. J. Whitworth, Drosophila parkin requires PINK1 for mitochondrial translocation and ubiquitinates mitofusin, Proc Natl Acad Sci USA, vol.107, pp.5018-5023, 2010.

V. Choubey, M. Cagalinec, J. Liiv, D. Safiulina, M. A. Hickey et al., BECN1 is involved in the initiation of mitophagy: it facilitates PARK2 translocation to mitochondria, Autophagy, vol.10, p.24879156, 2014.

D. Narendra, A. Tanaka, D. F. Suen, and R. J. Youle, Parkin is recruited selectively to impaired mitochondria and promotes their autophagy, J Cell Biol, vol.183, pp.795-803, 2008.

S. Geisler, K. M. Holmstrom, D. Skujat, F. C. Fiesel, O. C. Rothfuss et al., PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1, Nat Cell Biol, vol.12, pp.119-131, 2010.

N. Matsuda, S. Sato, K. Shiba, K. Okatsu, K. Saisho et al., PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy, J Cell Biol, vol.189, p.20404107, 2010.

D. P. Narendra, S. M. Jin, A. Tanaka, D. F. Suen, C. A. Gautier et al., PINK1 is selectively stabilized on impaired mitochondria to activate Parkin, PLoS Biol, vol.8, p.1000298, 2010.

V. Choubey, D. Safiulina, A. Vaarmann, M. Cagalinec, P. Wareski et al., Mutant A53T alphasynuclein induces neuronal death by increasing mitochondrial autophagy, J Biol Chem, vol.286, pp.10814-10824, 2011.
DOI : 10.1074/jbc.m110.132514

URL : http://www.jbc.org/content/286/12/10814.full.pdf

M. Shadrina, T. Nikopensius, P. Slominsky, S. Illarioshkin, G. Bagyeva et al., Association study of sporadic Parkinson's disease genetic risk factors in patients from Russia by APEX technology, Neurosci Lett, vol.405, p.16876316, 2006.

S. Kõks, R. W. Overall, M. Ivask, U. Soomets, M. Guha et al., Silencing of the WFS1 gene in HEK cells induces pathways related to neurodegeneration and mitochondrial damage, Physiol Genomics, vol.45, pp.82-190, 2013.

T. Visnapuu, M. Plaas, R. Reimets, S. Raud, A. Terasmaa et al., Evidence for impaired function of dopaminergic system in Wfs1-deficient mice, Behav Brain Res, vol.244, pp.90-99, 2013.

B. Westermann, Bioenergetic role of mitochondrial fusion and fission, Biochim Biophys Acta, vol.1817, p.22409868, 2012.

J. Flint and K. S. Kendler, The genetics of major depression, Neuron, vol.81, p.24507187, 2014.

R. G. Swift, D. B. Sadler, and M. Swift, Psychiatric findings in Wolfram syndrome homozygotes, Lancet, vol.336, p.1975860, 1990.

R. G. Swift, M. H. Polymeropoulos, R. Torres, and M. Swift, Predisposition of Wolfram syndrome heterozygotes to psychiatric illness, Mol Psychiatry, vol.3, p.9491819, 1998.

A. Sequeira, C. Kim, M. Seguin, A. Lesage, N. Chawky et al., Wolfram syndrome and suicide: Evidence for a role of WFS1 in suicidal and impulsive behavior, Am J Med Genet B Neuropsychiatr Genet, vol.119, p.12707947, 2003.

M. Swift and R. G. Swift, Wolframin mutations and hospitalization for psychiatric illness, Mol Psychiatry, vol.10, p.15852062, 2005.

G. Zalsman, M. J. Mann, Y. Y. Huang, M. A. Oquendo, D. A. Brent et al., Wolframin gene H611R polymorphism: no direct association with suicidal behavior but possible link to mood disorders, Prog. Neuropsychopharmacol. Biol Psychiatry, vol.33, pp.707-710, 2009.

R. A. Furlong, L. W. Ho, J. S. Rubinsztein, A. Michael, C. Walsh et al., Rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases, Neurosci Lett, vol.277, p.10624825, 1999.

, Role of Mitochondrial Dynamics in Neuronal Development: Mechanism for Wolfram Syndrome, PLOS Biology, 2016.

T. Ohtsuki, H. Ishiguro, T. Yoshikawa, and T. J. Arinami, WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder, Affect Disord, vol.8, pp.11-17, 2000.

R. Torres, E. Leroy, X. Hu, A. Katrivanou, P. Gourzis et al., Mutation screening of the Wolfram syndrome gene in psychiatric patients, Mol Psychiatry, vol.6, p.11244483, 2001.

M. Cagalinec, D. Safiulina, M. Liiv, J. Liiv, V. Choubey et al., Principles of the mitochondrial fusion and fission cycle in neurons, J Cell Sci, vol.126, pp.2187-2197, 2013.

H. Luuk, M. Plaas, S. Raud, J. Innos, S. Sütt et al., Wfs1-deficient mice display impaired behavioural adaptation in stressful environment, Behav Brain Res, vol.198, pp.334-345, 2009.