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1 . Academic Journal
Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.
저자
by
Cannata Serio, Magda
;
Graham, Laurie A.
;
Ashikov, Angel
;
Larsen, Lars Elmann
;
Raymond, Kimiyo
, et al.
소스
Hepatology (02709139); Dec2020, Vol. 72 Issue 6, p1968-1986, 19p
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7 . Academic Journal
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.
저자
by
Wortmann, Saskia B.
;
Timal, Sharita
;
Venselaar, Hanka
;
Wintjes, Liesbeth T.
;
Kopajtich, Robert
, et al.
소스
Human Mutation; Dec2017, Vol. 38 Issue 12, p1786-1795, 10p
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7 . Academic Journal
Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.
저자
by
Baertling, Fabian
;
Sánchez-Caballero, Laura
;
Timal, Sharita
;
van den Brand, Mariël AM
;
Ngu, Lock Hock
, et al.
소스
Molecular Genetics & Metabolism
. Mar2017, Vol. 120 Issue 3, p243-246. 4p.
Full Text (ScienceDirect)
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7 . Academic Journal
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
저자
by
Jansen, Jos C.
;
Cirak, Sebahattin
;
van Scherpenzeel, Monique
;
Timal, Sharita
;
Reunert, Janine
, et al.
소스
American Journal of Human Genetics
. Feb2016, Vol. 98 Issue 2, p310-321. 12p.
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7 . Academic Journal
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
저자
by
Jansen, Jos C.
;
Timal, Sharita
;
van Scherpenzeel, Monique
;
Michelakakis, Helen
;
Vicogne, Dorothée
, et al.
소스
American Journal of Human Genetics
. Feb2016, Vol. 98 Issue 2, p322-330. 9p.
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7 . Academic Journal
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
저자
by
Van Scherpenzeel, Monique
;
Timal, Sharita
;
Rymen, Daisy
;
Hoischen, Alexander
;
Wuhrer, Manfred
, et al.
소스
Brain
. Apr 01, 2014 137(4):1030-1038
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7 .
Fetal bovine serum impacts the observed N‐glycosylation defects in TMEM165 KO HEK cells
저자
by
Climer, Leslie
;
Morelle, Willy
;
De Bettignies, Geoffroy
;
Krzewinski Recchi, Marie-Ange
;
Lupashin, Vladimir
, et al.
소스
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 2019, ⟨10.1002/jimd.12161⟩
Journal of Inherited Metabolic Disease, Springer Verlag, 2019, ⟨10.1002/jimd.12161⟩
Journal of Inherited Metabolic Disease, Springer Verlag, 2019, 214 (12), pp.201817815. ⟨10.1002/jimd.12161⟩
Open Access (OpenAIRE)
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7 . Academic Journal
Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
저자
by
Friederich, Marisa W.
;
Timal, Sharita
;
Powell, Christopher A.
;
Dallabona, Cristina
;
Kurolap, Alina
, et al.
소스
NATURE COMMUNICATIONS
; OCT 3 2018, 9 p4065 14p.
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7 . Academic Journal
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation
저자
by
Ashikov, Angel
;
Abu Bakar, Nurulamin
;
Wen, Xiao-Yan
;
Niemeijer, Marco
;
Osorio, Glentino Rodrigues Pinto
, et al.
소스
HUMAN MOLECULAR GENETICS
; SEP 2018, 27 17, p3029-p3045, 17p.
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7 . Academic Journal
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing
저자
by
Timal, Sharita
;
Hoischen, Alexander
;
Lehle, Ludwig
;
Adamowicz, Maciej
;
Huijben, Karin
, et al.
소스
Human Molecular Genetics
. Oct 01, 2012 21(19):4151-4161
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