Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome

by Praseetha Kizhakkedath, Anne John, Lihadh Al-Gazali, Bassam R. Ali
Published 2018-01-01

Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia

by Praseetha Kizhakkedath, Anne John, Buthaina K. Al‐Sawafi, Lihadh Al‐Gazali, Bassam R. Ali
Published 2019-11-01

Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia

by Deepu Oommen, Praseetha Kizhakkedath, Aseel A. Jawabri, Divya Saro Varghese, Bassam R. Ali, Bassam R. Ali, Bassam R. Ali
Published 2020-09-01

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

by Nadia A. Akawi, Salma Ben-Salem, Jozef Hertecant, Anne John, Thachillath Pramathan, Praseetha Kizhakkedath, Bassam R. Ali, Lihadh Al-Gazali
Published 2016-10-01

Utility of clinical exome sequencing in a complex Emirati pediatric cohort

by Nour Abu Mahfouz, Praseetha Kizhakkedath, Alia Ibrahim, Maha El Naofal, Sathishkumar Ramaswamy, Divinlal Harilal, Yasmeen Qutub, Mohammed Uddin, Alan Taylor, Zeinab Alloub, Ammar AlBanna, Walid Abuhammour, Basil Fathalla, Ahmad Abou Tayoun
Published 2020-01-01