Article
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Brain : a journal of neurology - 12 Apr 2021
Sanderson Leslie E, Lanko Kristina, Alsagob Maysoon, Almass Rawan, Al-Ahmadi Nada, Najafi Maryam, Al-Muhaizea Mohammad A, Alzaidan Hamad, AlDhalaan Hesham, Perenthaler Elena, van der Linde Herma C, Nikoncuk Anita, Kühn Nikolas A, Antony Dinu, Owaidah Tarek Mustafa, Raskin Salmo, Vieira Luana Gabriela Dalla Rosa, Mombach Romulo, Ahangari Najmeh, Silveira Tainá Regina Damaceno, Ameziane Najim, Rolfs Arndt, Alharbi Aljohara, Sabbagh Raghda M, AlAhmadi Khalid, Alawam Bashayer, Ghebeh Hazem, AlHargan Aljouhra, Albader Anoud A, Binhumaid Faisal S, Goljan Ewa, Monies Dorota, Mustafa Osama M, Aldosary Mazhor, AlBakheet Albandary, Alyounes Banan, Almutairi Faten, Al-Odaib Ali, Aksoy Durdane Bekar, Basak A Nazli, Palvadeau Robin, Trabzuni Daniah, Rosenfeld Jill A, Karimiani Ehsan Ghayoor, Meyer Brian F, Karakas Bedri, Al-Mohanna Futwan, Arold Stefan T, Colak Dilek, Maroofian Reza, Houlden Henry, Bertoli-Avella Aida M, Schmidts Miriam, Barakat Tahsin Stefan, van Ham Tjakko J, Kaya Namik
Abstract excerpt
Membrane trafficking is a complex, essential process in eukaryotic cells responsible for protein transport and processing. Deficiencies in vacuolar protein sorting (VPS) proteins, key regulators of trafficking, cause abnormal intracellular segregation of macromolecules and organelles and are linked to human disease. VPS proteins function as part of complexes such as the homotypic fusion and vacuole protein...
Topics
- Adolescent
- Adult
- Animals
- Cerebellar Ataxia
