Category: Human Molecular Genetics

 

TSPO-PET Imaging Using [18F]PBR06 is a Potential Translatable Biomarker for Treatment Response in Huntington’s Disease: Preclinical Evidence with the p75NTR Ligand LM11A-31

 

Journal: Hum. Mol. Genet.

Authors: Simmons, DA;James, ML;Belichenko, NP;Semaan, S;Condon, C;Kuan, J;Shuhendler, AJ;Miao, Z;Chin, FT;Longo, FM;

Year: 2018

Publication ID: 29860333

Publication Date: 5/30/2018

Country: United States

Affiliation: Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA 94305

Article Link
 

Glycogen accumulation underlies neurodegeneration and autophagy impairment in Lafora disease

 

Journal: Human Molecular Genetics

Authors: Duran, J;Gruart, A;GarcÌ_a-Rocha, M;Delgado-GarcÌ_a, JM;Guinovart, JJ;

Year: 2014

Publication ID: 24452334

Publication Date: 6/15/14

Country: Spain

Affiliation: Institute for Research in Biomedicine (IRB Barcelona), Barcelona 08028, Spain Centro de InvestigaciÌ_n BiomÌ©dica en Red de Diabetes y Enfermedades MetabÌ_licas Asociadas (CIBERDEM), Barcelona 08017, Spain Department of Biochemistry and Molecular Biology, University of Barcelona, Barcelona 08028, Spain

Article Link
 

CREB-activity and nmnat2 transcription are down-regulated prior to neurodegeneration, while NMNAT2 over-expression is neuroprotective, in a mouse model of human tauopathy

 

Journal: Human Molecular Genetics

Authors: Ljungberg, MC;Ali, YO;Zhu, J;Wu, CS;Oka, K;Zhai, RG;Lu, HC;

Year: 2012

Publication ID: 22027994

Publication Date: 1/15/12

Country: United States

Affiliation: The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children‰Ûªs Hospital, Baylor College of Medicine, Houston, TX 77030, USA

Article Link
 

Reduction of ciliary length through pharmacologic or genetic inhibition of CDK5 attenuates polycystic kidney disease in a model of nephronophthisis

 

Journal: Human Molecular Genetics

Authors: Husson, H;Moreno, S;Smith, LA;Smith, MM;Russo, RJ;Pitstick, R;Sergeev, M;Ledbetter, SR;Bukanov, NO;Lane, M;Zhang, K;Billot, K;Carlson, G;Shah, J;Meijer, L;Beier, DR;Ibraghimov-Beskrovnaya, O;

Year: 2016

Publication ID: 27053712

Publication Date: 6/1/16

Country: United States

Affiliation: Department of Rare Diseases, Sanofi-Genzyme R&D Center, 49 New York Avenue, Framingham, MA 01701, USA

Article Link
 

Lipid-enriched diet rescues lethality and slows down progression in a murine model of VCP-associated disease

 

Journal: Human Molecular Genetics

Authors: Llewellyn, KJ;Nalbandian, A;Jung, KM;Nguyen, C;Avanesian, A;Mozaffar, T;Piomelli, D;Kimonis, VE;

Year: 2014

Publication ID: 24158850

Publication Date: 3/1/14

Country: United States

Affiliation: Department of Pediatrics, Division of Genetics and Metabolism

Article Link
 

A new mouse model for stationary night blindness with mutant Slc24a1 explains the pathophysiology of the associated human disease

 

Journal: Human Molecular Genetics

Authors: Vinberg, F;Wang, T;Molday, RS;Chen, J;Kefalov, VJ;

Year: 2015

Publication ID: 26246500

Publication Date: 10/15/15

Country: United States

Affiliation: Ophthalmology and Visual Sciences, Washington University School of Medicine, St. Louis, MO, USA

Article Link

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