The NIH Undiagnosed Diseases Program: Bonding scientists and clinicians

DMM Disease Models and Mechanisms

Volumn 5, Issue 1, 2012, Pages 3-5

  Gahl, William A ^a,b   Boerkoel, Cornelius F ^b   Boehm, Manfred ^c  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5' NUCLEOTIDASE; COMPLEMENTARY DNA; NT5E PROTEIN; UNCLASSIFIED DRUG;

CALCIFICATION; CHROMOSOME 6; CLAUDICATION; CONSANGUINITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SEQUENCE; FUNDING; GENE DISRUPTION; GENE EXPRESSION; GENETIC DATABASE; GENETIC DISORDER; HEALTH PROGRAM; HOMOZYGOSITY; HUMAN; MEDICAL RESEARCH; MEDICAL SOCIETY; NATIONAL HEALTH ORGANIZATION; PATHOPHYSIOLOGY; PHENOTYPE; PHYSICIAN; PRIORITY JOURNAL; REVIEW; SCIENTIST; SINGLE NUCLEOTIDE POLYMORPHISM; UNDIAGNOSED DISEASE PROGRAM; VASCULAR DISEASE;

HUMANS; MUTATION; NATIONAL INSTITUTES OF HEALTH (U.S.); PHENOTYPE; PHYSICIANS; RARE DISEASES; RESEARCH PERSONNEL; TRANSLATIONAL MEDICAL RESEARCH; UNITED STATES;

EID: 84855898763     PISSN: 17548403     EISSN: 17548411     Source Type: Journal    
DOI: 10.1242/dmm.009258     Document Type: Review

References (8)

1. Atorino, L., Silvestri, L., Koppen, M., Cassina, L., Ballabio, A., Marconi, R., Langer, T. and Casari, G. (2003). Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J. Cell Biol. 163, 777-787. (Pubitemid 37517885)
2. De Praeter, C. M., Gerwig, G. J., Bause, E., Nuytinck, L. K., Vliegenthart, J. F. G., Breuer, W., Kamerling, J. P., Espeel, M. F., Martin, J. J, De Paepe, A. M. et al. (2000). A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency. Am. J. Hum. Genet. 66, 1744-1756. (Pubitemid 30480082)
3. Gahl, W. A. and Tifft, C. J. (2011). The NIH Undiagnosed Diseases Program: lessons learned. JAMA 305, 1904-1905.
4. Gahl, W. A., Markello, T. C., Toro, C., Fuentes Fajardo, K., Sincan, M., Gill, F., Carlson-Donohoe, H., Gropman, A., Pierson, T. M., Golas, G. et al. (2011). The NIH Undiagnosed Diseases Program: insights into rare diseases. Genet. Medicine (in press).
5. Koppen, M., Metodiev, M. D., Casari, G., Rugarli, E. I. and Langer, T. (2007). Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia. Mol. Cell. Biol. 27, 758-767. (Pubitemid 46080140)
6. Markello, T. C., Pak, L. K., St. Hilaire, C., Dorward, H., Ziegler, S. G., Chen, M. Y., Chaganti, K., Nussbaum, R. L., Boehm, M. and Gahl, W. A. (2011). Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum. Mol. Genet. Metab. 103, 44-50.
7. Pierson, T. M., Adams, D., Bonn, F., Martinelli, P., Cherukuri, P. F., Teer, J. K., Hansen, N. F., Cruz, P., Mullikin, J. C., Blakesley, R. W. et al. (2011). Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genetics 7, e1002325.
8. St. Hilaire, C., Ziegler, S. G., Markello, T., Brusco, A., Groden, C., Gill, F., Carlson-Donohoe, H., Lederman, R. J., Chen, M. Y., Yang, D. et al. (2011). NT5E mutations and arterial calcifications. N. Engl. J. Med. 364, 432-442.