Brites, Pedro

Identification of PEX7 as the second gene involved in Refsum disease

van den Brink, D. M., Brites, P., Haasjes, J., Wierzbicki, A. S., Mitchell, J., Lambert-Hamill, M., de Belleroche, J., Jansen, G. A., Waterham, H. R., & Ronald Wanders, J. A. (2003) · The American Journal of Human Genetics

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 171

Peroxisomes, lipid metabolism and lipotoxicity

Wanders, R. J. A., Ferdinandusse, S., Brites, P., & Kemp, S. (2010) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Metabolism and Genetic DisordersLipid metabolism and biosynthesis

Cited by 169

Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata

Brites, P. (2003) · Human Molecular Genetics

Metabolism and Genetic DisordersGenetics and Neurodevelopmental Disorders

Cited by 116

Plasmalogens participate in very-long-chain fatty acid-induced pathology

Brites, P., Mooyer, P. A. W., el Mrabet, L., Waterham, H. R., & Wanders, R. J. A. (2008) · Brain

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 112

Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1

Motley, A. M., Brites, P., Gerez, L., Hogenhout, E., Haasjes, J., Benne, R., Tabak, H. F., Wanders, R. J. A., & Waterham, H. R. (2002) · The American Journal of Human Genetics

Metabolism and Genetic DisordersGlycogen Storage Diseases and Myoclonus

Cited by 107

Plasmalogen phospholipids protect internodal myelin from oxidative damage

Luoma, A. M., Kuo, F., Cakici, O., Crowther, M. N., Denninger, A. R., Avila, R. L., Brites, P., & Kirschner, D. A. (2015) · Free Radical Biology and Medicine

Antioxidant Activity and Oxidative StressRedox biology and oxidative stress

Cited by 97

Leukodystrophy caused by plasmalogen deficiency rescued by glyceryl 1-myristyl ether treatment

Malheiro, A. R., Correia, B., Ferreira da Silva, T., Bessa‐Neto, D., Van Veldhoven, P. P., & Brites, P. (2019) · Brain Pathology

Neurogenesis and neuroplasticity mechanismsMultiple Sclerosis Research Studies

Cited by 41

Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjogren-Larsson syndrome.

Malheiro, A. R., da Silva, T. F., & Brites, P. (2015) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersLipid metabolism and biosynthesis

Cited by 33

Ataxia with giant axonopathy in Acbd5 -deficient mice halted by adeno-associated virus gene therapy

Granadeiro, L., Zarralanga, V. E., Rosa, R., Franquinho, F., Lamas, S., & Brites, P. (2024) · Brain

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 9