Tanji, Kurenai

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)

Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J. E., Oh, S. J., Koga, Y., et al. (2000) · Nature

Glycogen Storage Diseases and MyoclonusLysosomal Storage Disorders Research

Cited by 959

A key role for MAM in mediating mitochondrial dysfunction in Alzheimer disease

Area-Gomez, E., de Groof, A., Bonilla, E., Montesinos, J., Tanji, K., Boldogh, I., Pon, L., & Schon, E. A. (2018) · Cell Death & Disease

Mitochondrial Function and PathologyAlzheimer's disease research and treatments

Cited by 235

Mitochondrial abnormalities in temporal lobe of autistic brain

Tang, G., Gutierrez Rios, P., Kuo, S.-H., Akman, H. O., Rosoklija, G., Tanji, K., Dwork, A., Schon, E. A., DiMauro, S., Goldman, J., et al. (2013) · Neurobiology of Disease

Autism Spectrum Disorder ResearchMitochondrial Function and Pathology

Cited by 194

Metastatic cancers promote cachexia through ZIP14 upregulation in skeletal muscle

Wang, G., Biswas, A. K., Ma, W., Kandpal, M., Coker, C., Grandgenett, P. M., Hollingsworth, M. A., Jain, R., Tanji, K., Lόpez-Pintado, S., et al. (2018) · Nature Medicine

Muscle Physiology and DisordersNutrition and Health in Aging

Cited by 188

A homozygous splice variant in ATP5PO , disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

Ganapathi, M., Friocourt, G., Gueguen, N., Friederich, M. W., Le Gac, G., Okur, V., Loaëc, N., Ludwig, T., Ka, C., Tanji, K., et al. (2022) · Journal of Inherited Metabolic Disease

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 18