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Sharita Timal | doi.page

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Sharita Timal

Radboud University Nijmegen(NL)Radboud University Medical Center(NL)Radboud Institute for Molecular Life Sciences(NL)

Publications by Year

Research Areas

Mitochondrial Function and Pathology, ATP Synthase and ATPases Research, Glycosylation and Glycoproteins Research, RNA and protein synthesis mechanisms, Cellular transport and secretion

Most-Cited Works

→ Multiple Phenotypes in Phosphoglucomutase 1 Deficiency(2014)284 cited
→ Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing(2012)170 cited
→ ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation(2016)150 cited
→ CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation(2016)98 cited
→ TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation(2016)89 cited
→ Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh Syndrome(2006)81 cited

→ Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation(2018)

64 cited

→ Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency(2014)53 cited

→ Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder(2018)53 cited

→ Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease(2020)52 cited