Keyword search (4,164 papers available)

"Son S" Authored Publications:

Title Authors PubMed ID
1 Regioselective Stepwise Synthesis of Unsymmetrical 1,2,5-Triarylpyrroles via Palladium-Catalyzed Decarboxylative Cross-Coupling and C-H Arylation Buonomano C; Patterson S; Ngou JS; Messina C; Taylor S; Bilodeau F; Forgione P; 41900086
CHEMBIOCHEM
2 Clinical Manifestations Gagnon C; Montero-Odasso M; Zou G; Speechley MR; Almeida QJ; Liu-Ambrose T; Middleton LE; Camicioli R; Bray NW; Li K; Fraser S; Pieruccini-Faria F; Burhan AM; Berryman N; Lussier M; Son S; Shoemaker JK; Bherer L; 41447475
CONCORDIA
3 Public Health Pieruccini-Faria F; Son S; Liu-Ambrose T; Burhan AM; Almeida QJ; Middleton LE; Li K; Fraser S; Bherer L; Montero-Odasso M; 41435121
CONCORDIA
4 Synergistic effects of exercise, cognitive training and vitamin D on gait performance and falls in mild cognitive impairment-secondary outcomes from the SYNERGIC trial Pieruccini-Faria F; Son S; Zou G; Almeida QJ; Middleton LE; Bray NW; Lussier M; Shoemaker JK; Speechley M; Liu-Ambrose T; Burhan AM; Camicioli R; Li KZH; Fraser S; Berryman N; Bherer L; Montero-Odasso M; 40966614
SOH
5 Sequencing of a Dairy Isolate Unlocks em Kluyveromyces marxianus /em as a Host for Lactose Valorization Thornbury M; Knoops A; Summerby-Murray I; Dhaliwal J; Johnson S; Utomo JC; Joshi J; Narcross L; Remondetto G; Pouliot M; Whiteway M; Martin VJJ; 40629255
BIOLOGY
6 Self-Ambivalence Is Indirectly Associated With Obsessive-Compulsive and Eating Disorder Symptoms Through Different Feared Self-Themes Wilson S; Mesli N; Mehak A; Racine SE; 40227164
PSYCHOLOGY
7 Expanding a Behavioral View on Digital Health Access: Drivers and Strategies to Promote Equity Kepper MM; Fowler LA; Kusters IS; Davis JW; Baqer M; Sagui-Henson S; Xiao Y; Tarfa A; Yi JC; Gibson B; Heron KE; Alberts NM; Burgermaster M; Njie-Carr VP; Klesges LM; 39088246
PSYCHOLOGY
8 Feasibility and acceptability of an adapted peer-based walking intervention for adults with moderate-to-severe traumatic brain injury Quilico EL; Wilkinson S; Duncan LR; Sweet SN; Alarie C; Bédard E; Gheta I; Brodeur CL; Colantonio A; Swaine BR; 39051571
CONCORDIA
9 Criminal Code reform of HIV non-disclosure is urgently needed: Social science perspectives on the harms of HIV criminalization in Canada Hastings C; French M; McClelland A; Mykhalovskiy E; Adam B; Bisaillon L; Bogosavljevic K; Gagnon M; Greene S; Guta A; Hindmarch S; Kaida A; Kilty J; Massaquoi N; Namaste V; O' Byrne P; Orsini M; Patterson S; Sanders C; Symington A; Wilson C; 38087186
PSYCHOLOGY
10 Candida albicans exhibits heterogeneous and adaptive cytoprotective responses to anti-fungal compounds Dumeaux V; Massahi S; Bettauer V; Mottola A; Dukovny A; Khurdia SS; Costa ACBP; Omran RP; Simpson S; Xie JL; Whiteway M; Berman J; Hallett MT; 37888959
BIOLOGY
11 Spatial and Temporal Availability of Cloud-free Optical Observations in the Tropics to Monitor Deforestation Flores-Anderson AI; Cardille J; Azad K; Cherrington E; Zhang Y; Wilson S; 37607919
ENCS
12 Effects of Exercise Alone or Combined With Cognitive Training and Vitamin D Supplementation to Improve Cognition in Adults With Mild Cognitive Impairment: A Randomized Clinical Trial Montero-Odasso M; Zou G; Speechley M; Almeida QJ; Liu-Ambrose T; Middleton LE; Camicioli R; Bray NW; Li KZH; Fraser S; Pieruccini-Faria F; Berryman N; Lussier M; Shoemaker JK; Son S; Bherer L; 37471089
PERFORM
13 COVID-19's impact on a community-based physical activity program for adults with moderate-to-severe TBI Quilico EL; Wilkinson S; Bédard E; Duncan LR; Sweet SN; Swaine BR; Colantonio A; 37184357
AHSC
14 Exploring a peer-based physical activity program in the community for adults with moderate-to-severe traumatic brain injury Quilico E; Sweet S; Duncan L; Wilkinson S; Bonnell K; Alarie C; Swaine B; Colantonio A; 37157834
AHSC
15 A metagenomic-based study of two sites from the Barbadian reef system Simpson S; Bettauer V; Ramachandran A; Kraemer S; Mahon S; Medina M; Vallès Y; Dumeaux V; Vallès H; Walsh D; Hallett MT; 37009568
BIOLOGY
16 Participatory co-creation of an adapted physical activity program for adults with moderate-to-severe traumatic brain injury Quilico E; Wilkinson S; Duncan L; Sweet S; Bédard E; Trudel E; Colantonio A; Swaine B; 36188895
AHSC
17 A Deep Learning Approach to Capture the Essence of Candida albicans Morphologies Bettauer V; Costa ACBP; Omran RP; Massahi S; Kirbizakis E; Simpson S; Dumeaux V; Law C; Whiteway M; Hallett MT; 35972285
BIOLOGY
18 Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction. Milev MP, Grout ME, Saint-Dic D, Cheng YH, Glass IA, Hale CJ, Hanna DS, Dorschner MO, Prematilake K, Shaag A, Elpeleg O, Sacher M, Doherty D, Edvardson S 28777934
BIOLOGY
19 Parental Nutrition Knowledge Rather Than Nutrition Label Use Is Associated With Adiposity in Children. Kakinami L, Houle-Johnson S, McGrath JJ 27373860
PERFORM

 

Title:Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.
Authors:Milev MPGrout MESaint-Dic DCheng YHGlass IAHale CJHanna DSDorschner MOPrematilake KShaag AElpeleg OSacher MDoherty DEdvardson S
Link:https://www.ncbi.nlm.nih.gov/pubmed/28777934?dopt=Abstract
DOI:10.1016/j.ajhg.2017.07.006
Publication:American journal of human genetics
Keywords:GolgiTRAPPTRAPPC12brain atrophyencephalopathypotocerebellar hypoplasia
PMID:28777934 Category:Am J Hum Genet Date Added:2019-06-20
Dept Affiliation: BIOLOGY
1 Department of Biology, Concordia University, Montreal, QC H4B 1R6, Canada.
2 Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
3 Department of Pathology, Center for Precision Diagnostics, University of Washington, Seattle, WA 98195, USA.
4 Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.
5 Department of Biology, Concordia University, Montreal, QC H4B 1R6, Canada; Department of Anatomy and Cell Biology, McGill University, Montreal, QC H3A 0C7, Canada. Electronic address: michael.sacher@concordia.ca.
6 Department of Pediatrics, University of Washington, Seattle, WA 98195, USA. Electronic address: ddoher@uw.edu.
7 Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.

Description:

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.

Am J Hum Genet. 2017 Aug 03;101(2):291-299

Authors: Milev MP, Grout ME, Saint-Dic D, Cheng YH, Glass IA, Hale CJ, Hanna DS, Dorschner MO, Prematilake K, Shaag A, Elpeleg O, Sacher M, Doherty D, Edvardson S

Abstract

Progressive childhood encephalopathy is an etiologically heterogeneous condition characterized by progressive central nervous system dysfunction in association with a broad range of morbidity and mortality. The causes of encephalopathy can be either non-genetic or genetic. Identifying the genetic causes and dissecting the underlying mechanisms are critical to understanding brain development and improving treatments. Here, we report that variants in TRAPPC12 result in progressive childhood encephalopathy. Three individuals from two unrelated families have either a homozygous deleterious variant (c.145delG [p.Glu49Argfs*14]) or compound-heterozygous variants (c.360dupC [p.Glu121Argfs*7] and c.1880C>T [p. Ala627Val]). The clinical phenotypes of the three individuals are strikingly similar: severe disability, microcephaly, hearing loss, spasticity, and characteristic brain imaging findings. Fibroblasts derived from all three individuals showed a fragmented Golgi that could be rescued by expression of wild-type TRAPPC12. Protein transport from the endoplasmic reticulum to and through the Golgi was delayed. TRAPPC12 is a member of the TRAPP protein complex, which functions in membrane trafficking. Variants in several other genes encoding members of the TRAPP complex have been associated with overlapping clinical presentations, indicating shared and distinct functions for each complex member. Detailed understanding of the TRAPP-opathies will illuminate the role of membrane protein transport in human disease.

PMID: 28777934 [PubMed - indexed for MEDLINE]





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