Volume 26; Issue 18

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Human Molecular Genetics
Volume 26; Issue 18

Human Molecular Genetics

Volume 26; Issue 18

1

Enhanced vulnerability of human proteins towards disease-associated inactivation through divergent evolution

Medina-Carmona, Encarnación, Fuchs, Julian E., Gavira, Jose A., Mesa-Torres, Noel, Neira, Jose L., Salido, Eduardo, Palomino-Morales, Rogelio, Burgos, Miguel, Timson, David J., Pey, Angel L.

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.39 MB

english, 2017

2

Loss of native α-synuclein multimerization by strategically mutating its amphipathic helix causes abnormal vesicle interactions in neuronal cells

Dettmer, Ulf, Ramalingam, Nagendran, von Saucken, Victoria E., Kim, Tae-Eun, Newman, Andrew J., Terry-Kantor, Elizabeth, Nuber, Silke, Ericsson, Maria, Fanning, Saranna, Bartels, Tim, Lindquist, Susan

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 2.27 MB

english, 2017

3

Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death

Cao, Siqi, Smith, Laura L., Padilla-Lopez, Sergio R., Guida, Brandon S., Blume, Elizabeth, Shi, Jiahai, Morton, Sarah U., Brownstein, Catherine A., Beggs, Alan H., Kruer, Michael C., Agrawal, Pankaj B

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 593 KB

english, 2017

4

Identification of the molecular dysfunction caused by glutamate dehydrogenase S445L mutation responsible for hyperinsulinism/hyperammonemia

Grimaldi, Mariagrazia, Karaca, Melis, Latini, Livia, Brioudes, Estelle, Schalch, Thomas, Maechler, Pierre

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 802 KB

english, 2017

5

Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy

Torriano, Simona, Erkilic, Nejla, Faugère, Valérie, Damodar, Krishna, Hamel, Christian P., Roux, Anne-Francoise, Kalatzis, Vasiliki

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.32 MB

english, 2017

6

HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia

Ota, Sara, Zhou, Zi-Qiang, Romero, Megan P., Yang, Guang, Hurlin, Peter J.

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 139 KB

english, 2017

7

Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution

Mägi, Reedik, Horikoshi, Momoko, Sofer, Tamar, Mahajan, Anubha, Kitajima, Hidetoshi, Franceschini, Nora, McCarthy, Mark I., Morris, Andrew P.

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 338 KB

english, 2017

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