Volume 21; Issue 17

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Human Molecular Genetics
Volume 21; Issue 17

Human Molecular Genetics

Volume 21; Issue 17

1

Identification of novel ATP13A2 interactors and their role in -synuclein misfolding and toxicity

Usenovic, M., Knight, A. L., Ray, A., Wong, V., Brown, K. R., Caldwell, G. A., Caldwell, K. A., Stagljar, I., Krainc, D.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 75 KB

english, 2012

2

Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndrome

Andrade, L. N. d. S., Nathanson, J. L., Yeo, G. W., Menck, C. F. M., Muotri, A. R.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 548 KB

english, 2012

3

Signaling defects in iPSC-derived fragile X premutation neurons

Liu, J., Koscielska, K. A., Cao, Z., Hulsizer, S., Grace, N., Mitchell, G., Nacey, C., Githinji, J., McGee, J., Garcia-Arocena, D., Hagerman, R. J., Nolta, J., Pessah, I. N., Hagerman, P. J.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 727 KB

english, 2012

4

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness

Delmaghani, S., Aghaie, A., Michalski, N., Bonnet, C., Weil, D., Petit, C.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 465 KB

english, 2012

5

Calpain and STriatal-Enriched protein tyrosine Phosphatase (STEP) activation contribute to extrasynaptic NMDA receptor localization in a Huntington's disease mouse model

Gladding, C. M., Sepers, M. D., Xu, J., Zhang, L. Y. J., Milnerwood, A. J., Lombroso, P. J., Raymond, L. A.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 579 KB

english, 2012

6

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome

Cossins, J., Liu, W. W., Belaya, K., Maxwell, S., Oldridge, M., Lester, T., Robb, S., Beeson, D.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 561 KB

english, 2012

7

Retrocochlear function of the peripheral deafness gene Cacna1d

Satheesh, S. V., Kunert, K., Ruttiger, L., Zuccotti, A., Schonig, K., Friauf, E., Knipper, M., Bartsch, D., Nothwang, H. G.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 9.36 MB

english, 2012

8

Contents Page

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 34 KB

english, 2012

9

E2F transcription factor-1 deficiency reduces pathophysiology in the mouse model of Duchenne muscular dystrophy through increased muscle oxidative metabolism

Blanchet, E., Annicotte, J.-S., Pradelli, L. A., Hugon, G., Matecki, S., Mornet, D., Rivier, F., Fajas, L.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 370 KB

english, 2012

10

The autoimmunity-associated BLK haplotype exhibits cis-regulatory effects on mRNA and protein expression that are prominently observed in B cells early in development

Simpfendorfer, K. R., Olsson, L. M., Manjarrez Orduno, N., Khalili, H., Simeone, A. M., Katz, M. S., Lee, A. T., Diamond, B., Gregersen, P. K.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 235 KB

english, 2012

11

Early transcriptional changes linked to naturally occurring Huntington's disease mutations in neural derivatives of human embryonic stem cells

Feyeux, M., Bourgois-Rocha, F., Redfern, A., Giles, P., Lefort, N., Aubert, S., Bonnefond, C., Bugi, A., Ruiz, M., Deglon, N., Jones, L., Peschanski, M., Allen, N. D., Perrier, A. L.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 631 KB

english, 2012

12

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

van Blitterswijk, M., van Es, M. A., Hennekam, E. A. M., Dooijes, D., van Rheenen, W., Medic, J., Bourque, P. R., Schelhaas, H. J., van der Kooi, A. J., de Visser, M., de Bakker, P. I. W., Veldink, J.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 321 KB

english, 2012

13

Early complex I assembly defects result in rapid turnover of the ND1 subunit

Zurita Rendon, O., Shoubridge, E. A.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 376 KB

english, 2012

14

Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation

Maltecca, F., De Stefani, D., Cassina, L., Consolato, F., Wasilewski, M., Scorrano, L., Rizzuto, R., Casari, G.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 564 KB

english, 2012

15

Postnatal inactivation reveals enhanced requirement for MeCP2 at distinct age windows

Cheval, H., Guy, J., Merusi, C., De Sousa, D., Selfridge, J., Bird, A.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 360 KB

english, 2012

16

Cover Page

Journal:

Human Molecular Genetics

Year:

2012

File:

PDF, 1.55 MB

2012

17

Editorial Board

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 22 KB

english, 2012

18

Loss of function of Ifi202b by a microdeletion on chromosome 1 of C57BL/6J mice suppresses 11 -hydroxysteroid dehydrogenase type 1 expression and development of obesity

Vogel, H., Scherneck, S., Kanzleiter, T., Benz, V., Kluge, R., Stadion, M., Kryvych, S., Bluher, M., Kloting, N., Joost, H.-G., Schurmann, A.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 633 KB

english, 2012

19

Subscription Page

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 31 KB

english, 2012

20

Amyloid precursor protein (APP) contributes to pathology in the SOD1G93A mouse model of amyotrophic lateral sclerosis

Bryson, J. B., Hobbs, C., Parsons, M. J., Bosch, K. D., Pandraud, A., Walsh, F. S., Doherty, P., Greensmith, L.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 533 KB

english, 2012