Volume 26, Issue 12
15 June 2017
Cover image
Cover image
Cover: Neuroblastoma cells expressing truncated (“STOP”) versions of M87 or M1 isoforms of spastin (or control cells), immunostained to reveal Golgi (green). M87-STOP has no obvious effect on Golgi, while M1-STOP results in Golgi dispersion. These and other data indicate that truncating and other mutations of spastin associated with Hereditary Spastic Paraplegia produce toxic gain-of-function effects leading to abnormalities in organelle distribution, but only in the case of the M1 isoform of spastin.
ISSN 0964-6906
EISSN 1460-2083
Issue navigation
Volume 26, Issue 12, 15 June 2017
ARTICLES
EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome
Human Molecular Genetics, Volume 26, Issue 12, 15 June 2017, Pages 2177–2191, https://doi.org/10.1093/hmg/ddx078
Misregulation of calcium-handling proteins promotes hyperactivation of calcineurin–NFAT signaling in skeletal muscle of DM1 mice
Human Molecular Genetics, Volume 26, Issue 12, 15 June 2017, Pages 2192–2206, https://doi.org/10.1093/hmg/ddx109
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye
Human Molecular Genetics, Volume 26, Issue 12, 15 June 2017, Pages 2207–2217, https://doi.org/10.1093/hmg/ddx110
REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival
Human Molecular Genetics, Volume 26, Issue 12, 15 June 2017, Pages 2218–2230, https://doi.org/10.1093/hmg/ddx111
Sodium butyrate rescues dopaminergic cells from alpha-synuclein-induced transcriptional deregulation and DNA damage
Human Molecular Genetics, Volume 26, Issue 12, 15 June 2017, Pages 2231–2246, https://doi.org/10.1093/hmg/ddx114
Reduced cytoplasmic MBNL1 is an early event in a brain-specific mouse model of myotonic dystrophy
Human Molecular Genetics, Volume 26, Issue 12, 15 June 2017, Pages 2247–2257, https://doi.org/10.1093/hmg/ddx115
Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis
Human Molecular Genetics, Volume 26, Issue 12, 15 June 2017, Pages 2258–2276, https://doi.org/10.1093/hmg/ddx116
Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease
Human Molecular Genetics, Volume 26, Issue 12, 15 June 2017, Pages 2277–2289, https://doi.org/10.1093/hmg/ddx118
Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice
Human Molecular Genetics, Volume 26, Issue 12, 15 June 2017, Pages 2290–2298, https://doi.org/10.1093/hmg/ddx119
Two pathways of rod photoreceptor cell death induced by elevated cGMP
Human Molecular Genetics, Volume 26, Issue 12, 15 June 2017, Pages 2299–2306, https://doi.org/10.1093/hmg/ddx121
Scribble1 plays an important role in the pathogenesis of neural tube defects through its mediating effect of Par-3 and Vangl1/2 localization
Human Molecular Genetics, Volume 26, Issue 12, 15 June 2017, Pages 2307–2320, https://doi.org/10.1093/hmg/ddx122
Mutant spastin proteins promote deficits in axonal transport through an isoform-specific mechanism involving casein kinase 2 activation
Human Molecular Genetics, Volume 26, Issue 12, 15 June 2017, Pages 2321–2334, https://doi.org/10.1093/hmg/ddx125
CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish
Human Molecular Genetics, Volume 26, Issue 12, 15 June 2017, Pages 2335–2345, https://doi.org/10.1093/hmg/ddx137
ASSOCIATION STUDIES ARTICLES
Discovery of novel heart rate-associated loci using the Exome Chip
Human Molecular Genetics, Volume 26, Issue 12, 15 June 2017, Pages 2346–2363, https://doi.org/10.1093/hmg/ddx113
A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease
Human Molecular Genetics, Volume 26, Issue 12, 15 June 2017, Pages 2364–2376, https://doi.org/10.1093/hmg/ddx123
