BIBLIOGRAPHY

Selection of articles of interest

A selection of scientific articles and books about Charcot-Marie-Tooth disease and Mitofusin2

Articles

Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation

Guillet V, Gueguen N, Cartoni R, Chevrollier A, Desquiret V, Angebault C, Amati-Bonneau P, Procaccio V, Bonneau D, Martinou JC, Reynier P.

MFN2 mutations cause severe phenotypes in most patients with CMT2A

Feely SM, Laura M, Siskind CE, Sottile S, Davis M, Gibbons VS, Reilly MM, Shy ME.

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy ‘plus’ phenotype

Rouzier C, Bannwarth S, Chaussenot A, Chevrollier A, Verschueren A,Bonello-Palot N, Fragaki K, Cano A, Pouget J, Pellissier JF, Procaccio V, Chabrol B, Paquis-Flucklinger V.

Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function

Chevrollier A, Cassereau J, Ferré M, Alban J, Desquiret-Dumas V, Gueguen N, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P.

A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A

Park SY, Kim SY, Hong YH, Cho SI, Seong MW, Park SS.

Insights on altered mitochondrial function and dynamics in the pathogenesis of neurodegeneration

McInnes J.

Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion

Vielhaber S, Debska-Vielhaber G, Peeva V, Schoeler S, Kudin AP, Minin I, Schreiber S, Dengler R, Kollewe K, Zuschratter W, Kornblum C, Zsurka G, Kunz WS

Mitochondrial fusion proteins and human diseases

Ranieri M, Brajkovic S, Riboldi G, Ronchi D, Rizzo F, Bresolin N, Corti S, Comi GP.

Expression of mitofusin 2R94Q in a transgenic mouse leads to Charcot–Marie–Tooth neuropathy type 2
[Cartoni R, Arnaud E, Médard JJ, Poirot O, Courvoisier DS, Chrast R, Martinou JC.]

Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2
[Cho HJ, Sung DH, Kim BJ, Ki CS.]

Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations
[Chung KW, Kim SB, Park KD, Choi KG, Lee JH, Eun HW, et al.]

Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1
[Corti S, Locatelli F, Papadimitriou D, Donadoni C, Del Bo R, Crimi M, Bordoni A, Fortunato F, Strazzer S, Menozzi G, Salani S, Bresolin N, Comi GP]

Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy
[Corti S, Nizzardo M, Nardini M, Donadoni C, Salani S, Ronchi D, Saladino F, Bordoni A, Fortunato F, Del Bo R, Papadimitriou D, Locatelli F, Menozzi G, Strazzer S, Bresolin N, Comi GP]

Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice
[Corti S, Nizzardo M, Nardini M, Donadoni C, Salani S, Ronchi D, Simone C, Falcone M, Papadimitriou D, Locatelli F, Mezzina N, Gianni F, Bresolin N, Comi GP]

Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation
[Del Bo R, Locatelli F, Corti S, Scarlato M, Ghezzi S, Prelle A, Fagiolari G, Moggio M, Carpo M, Bresolin N, Comi GP]

Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A
[Detmer SA, Vande Velde C, Cleveland DW, Chan DC.]

MFN2 mutations cause severe phenotypes in most patients with CMT2A
[Feely SM, Laura M, Siskind CE, Sottile S, Davis M, Gibbons VS, Reilly MM, Shy ME]

GDNF: a potent survival factor for motoneurons present in peripheral nerve and muscle
[Simmons L. et al.]

Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type2
[Kijima K, Numakura C, Izumino H, Umetsu K, Nezu A, Shiiki T, et al.]

Molecular mechanisms of inherited demyelinating neuropathies
[Scherer SS, Wrabetz L.]

GDNF secreting human neural progenitor cells protect dying motor neurons, but not their projection to muscle, in a rat model of familial ALS
[Suzuki M, McHugh J, Tork C, Shelley B, Klein SM, Aebischer P, Svendsen CN.]

Direct muscle delivery of GDNF with human mesenchymal stem cells improves motor neuron survival and function in a rat model of familial ALS
[Suzuki M, McHugh J, Tork C, Shelley B, Hayes A, Bellantuono I, Aebischer P, Svendsen CN]

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2
[Verhoeven K, Claeys KG, Zuchner S, Schroder JM, Weis J, Ceuterick C, et al.]

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2
[Zuchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J,Dadali EL, et al. ]