Murat Gültekin

Clinical Evaluation of Three KRS Families and Cellular Analysis of Distinct ATP13A2 Mutations Reveal Different Levels of Iron Accumulation

Ezgi Erterek, Benan Temizci, Ş. Tekgül, Bilal Çakır et autres

Kufor-Rakeb Syndrome (KRS) is a rare neurodegenerative disease caused by homozygous mutations in the ATP13A2 gene. The ATP13A2 protein, found in lysosomal and late-endosomal membranes, performs cellular functions such as iron-chelating agent transport and intracellular iron homeostasis. Mutations in ATP13A2 can lead …

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Pathogenic VCP (p.Arg453Trp) variant in three siblings with frontotemporal dementia–amyotrophic lateral sclerosis spectrum: A Turkish family

Murat Gültekin, Beyzanur Altıkulaç İlikhan, Recep Baydemir, Yıldız Değirmenci et autres

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