Majid Alfadhel, Marwan Nashabat, Muhammad Talal Alrifai, Hesham Alshaalan, Fuad Al Mutairi, Saif A Al-Shahrani, Barbara Plecko, Rawan Almass, Maysoon Alsagob, Faten B Almutairi, Ahmed Al-Rumayyan, Waleed Al-Twaijri, Mohammed Al-Owain, Robert W Taylor, Namik Kaya
Iron-Sulfur Cluster (ISC) biogenesis is a vital cellular process required to produce various ISC-containing proteins. These ISC proteins are responsible for essential functions such as glycine cleavage and the formation of lipoic acid, an essential cofactor of respiratory chain complexes. Defects in ISC biogenesis lead to multiple mitochondrial dysfunction syndromes including: ISCA2 with infantile onset leukodystrophy. Recently, a founder mutation, c.229G > A, p.Gly77Ser in ISCA2 was reported to cause Multiple Mitochondrial Dysfunction Syndrome type 4...
January 2018: European Journal of Paediatric Neurology: EJPN