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A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a TRAPPC1-Associated Neurodevelopmental Syndrome

Author(s): Zykaj E; Abboud C; Asadi P; Warsame S; Almousa H; Milev MP; Greco BM; López-Sánchez M; Bratkovic D; Kachroo AH; Pérez-Jurado LA; Sacher M;

Variants in membrane trafficking proteins are known to cause rare disorders with severe symptoms. The highly conserved transport protein particle (TRAPP) complexes are key membrane trafficking regulators that are also involved in autophagy. Pathogenic genetic variants in specific TRAPP subunits a ...

Article GUID: 39273027


TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Author(s): Almousa H; Lewis SA; Bakhtiari S; Nordlie SH; Pagnozzi A; Magee H; Efthymiou S; Heim JA; Cornejo P; Zaki MS; Anwar N; Maqbool S; Rahman F; Neilson DE; Vemuri A; Jin SC; Yang XR; Heidari A; van Gassen K; Trimouille A; Thauvin-Robinet C; L ...

Highly conserved transport protein particle (TRAPP) complexes regulate subcellular trafficking pathways. Accurate protein trafficking has been increasingly recognized to be critically important for normal development, particularly in the nervous system. Variants in most TRAPP complex subunits hav ...

Article GUID: 37713627


Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice

Author(s): Rawlins LE; Almousa H; Khan S; Collins SC; Milev MP; Leslie J; Saint-Dic D; Khan V; Hincapie AM; Day JO; McGavin L; Rowley C; Harlalka GV; Vancollie VE; Ahmad W; Lelliott CJ; Gul A; Yalcin B; Crosby AH; Sacher M; Baple EL;

The highly evolutionarily conserved transport protein particle (TRAPP) complexes (TRAPP II and III) perform fundamental roles in subcellular trafficking pathways. Here we identified biallelic sequence alterations in TRAPPC10, a component of the TRAPP II complex, in individuals with a severe micro ...

Article GUID: 35298461


Genotoxicity of cisplatin and carboplatin in cultured human lymphocytes: a comparative study.

Author(s): Azab B, Alassaf A, Abu-Humdan A, Dardas Z, Almousa H, Alsalem M, Khabour O, Hammad H, Saleh T, Awidi A

Interdiscip Toxicol. 2019 Oct;12(2):93-97 Authors: Azab B, Alassaf A, Abu-Humdan A, Dardas Z, Almousa H, Alsalem M, Khabour O, Hammad H, Saleh T, Awidi A

Article GUID: 32206030


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