Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families

Autor: Arfa Azeem, Asif Naveed Ahmed, Niamat Khan, Nikol Voutsina, Irfan Ullah, Nishanka Ubeyratna, Muhammad Yasin, Emma L. Baple, Andrew H. Crosby, Lettie E. Rawlins, Shamim Saleha

Publikováno v: BMC Neurology, Vol 24, Iss 1, Pp 1-12 (2024)

Abstract Background Hereditary Spastic Paraplegias (HSPs) and Hereditary Cerebellar Ataxias (HCAs) are progressive neurodegenerative disorders encompassing a spectrum of neurogenetic conditions with significant overlaps of clinical features. Spastic

Externí odkaz: https://doaj.org/article/d4bf35dcfb944293a3a071c1c5bad1e8

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder

Autor: Reham, Khalaf-Nazzal, James, Fasham, Katherine A, Inskeep, Lauren E, Blizzard, Joseph S, Leslie, Matthew N, Wakeling, Nishanka, Ubeyratna, Tadahiro, Mitani, Jennifer L, Griffith, Wisam, Baker, Fida', Al-Hijawi, Karen C, Keough, Alper, Gezdirici, Loren, Pena, Christine G, Spaeth, Peter D, Turnpenny, Joseph R, Walsh, Randall, Ray, Amber, Neilson, Evguenia, Kouranova, Xiaoxia, Cui, David T, Curiel, Davut, Pehlivan, Zeynep Coban, Akdemir, Jennifer E, Posey, James R, Lupski, William B, Dobyns, Rolf W, Stottmann, Andrew H, Crosby, Emma L, Baple

Publikováno v: The American Journal of Human Genetics. 109:2068-2079

Non-centrosomal microtubules are essential cytoskeletal filaments that are important for neurite formation, axonal transport, and neuronal migration. They require stabilization by microtubule minus-end-targeting proteins including the CAMSAP family o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::009bb3b6aad7ac50a8ab0b3ad3182349
https://doi.org/10.1016/j.ajhg.2022.09.012

Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

Autor: Joseph S. Leslie, Rim Hjeij, Asaf Vivante, Elizabeth A. Bearce, Laura Dyer, Jiaolong Wang, Lettie Rawlins, Joanna Kennedy, Nishanka Ubeyratna, James Fasham, Zoe H. Irons, Samuel B. Craig, Julia Koenig, Sebastian George, Ben Pode-Shakked, Yoav Bolkier, Ortal Barel, Shrikant Mane, Kathrine K. Frederiksen, Olivia Wenger, Ethan Scott, Harold E. Cross, Esben Lorentzen, Dominic P. Norris, Yair Anikster, Heymut Omran, Daniel T. Grimes, Andrew H. Crosby, Emma L. Baple

Publikováno v: Leslie, J S, Hjeij, R, Vivante, A, Bearce, E A, Dyer, L, Wang, J, Rawlins, L, Kennedy, J, Ubeyratna, N, Fasham, J, Irons, Z H, Craig, S B, Koenig, J, George, S, Pode-Shakked, B, Bolkier, Y, Barel, O, Mane, S, Frederiksen, K K, Wenger, O, Scott, E, Cross, H E, Lorentzen, E, Norris, D P, Anikster, Y, Omran, H, Grimes, D T, Crosby, A H & Baple, E L 2022, ' Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities ', Genetics in Medicine, vol. 24, no. 11, pp. 2249-2261 . https://doi.org/10.1016/j.gim.2022.07.019

Purpose: The clinical spectrum of motile ciliopathies includes laterality defects, hydrocephalus, and infertility as well as primary ciliary dyskinesia when impaired mucociliary clearance results in otosinopulmonary disease. Importantly, approximatel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b3b5514ace8d91203c68da060b7c2d1
https://pubmed.ncbi.nlm.nih.gov/36074124