S
Sakkubai Naidu
Researcher at Kennedy Krieger Institute
Publications - 93
Citations - 4909
Sakkubai Naidu is an academic researcher from Kennedy Krieger Institute. The author has contributed to research in topics: Rett syndrome & Leukodystrophy. The author has an hindex of 36, co-authored 90 publications receiving 4415 citations. Previous affiliations of Sakkubai Naidu include Johns Hopkins University School of Medicine & Johns Hopkins University.
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Journal ArticleDOI
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
Peter A. J. Leegwater,Gerre Vermeulen,Andrea A.M. Könst,Sakkubai Naidu,Joyce Mulders,Allerdien Visser,Paula Kersbergen,Dragosh Mobach,Dafna Fonds,Carola G.M. van Berkel,Richard J.L.F. Lemmers,Rune R. Frants,Cees B.M. Oudejans,Ruud B.H. Schutgens,Jan C. Pronk,Marjo S. van der Knaap +15 more
TL;DR: In this article, the authors identified mutations in EIF2B5, encoding the ǫ-and β-subunits of the translation initiation factor eIF2b and located on chromosomes 3q27 and 14q24, respectively, as causing leukoencephalopathy with vanishing white matter (VWM).
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Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.
Marjo S. van der Knaap,Peter A. J. Leegwater,Andrea A.M. Könst,Allerdien Visser,Sakkubai Naidu,Cees B.M. Oudejans,Ruud B.H. Schutgens,Jan C. Pronk +7 more
TL;DR: In this paper, mutations in genes encoding the epsilon- or the beta-subunit of the eukaryotic translation initiation factor eIF2B, a complex consisting of five subunits, cause the disease.
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Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls
Ann B. Moser,Nancy Kreiter,Lena Bezman,Shou En Lu,Gerald V. Raymond,Sakkubai Naidu,Hugo W. Moser,Hugo W. Moser +7 more
TL;DR: VLCFA levels were increased in all patients homozygous for Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum's disease, and in patients with deficiencies of peroxisomal acyl‐coenzyme A oxidase, bifunctional enzyme, and 3‐oxoacyl‐coENzyme A thiolase.
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Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups
Ann B. Moser,Magnhild Rasmussen,Sakkubai Naidu,Paul A. Watkins,Martina C. Mcguinness,Amiya K. Hajra,Grace L. Chen,Gerald V. Raymond,Angela Liu,Donald Gordon,Karen Garnaas,David S. Walton,Ola H. Skjeldal,Mary Anne Guggenheim,Laird G. Jackson,Ellen R. Elias,Hugo W. Moser +16 more
TL;DR: At least 16 complementation groups, and hence genotypes, are associated with clinical manifestations of disorders of peroxisome assembly, including the Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease, and rhizomelic chondrodysplasia punctata.
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Neuroanatomy of Rett syndrome: a volumetric imaging study.
Allan L. Reiss,Faisal Faruque,Sakkubai Naidu,Sakkubai Naidu,Michael T. Abrams,Terri H. Beaty,Robert 'Nick' Bryan,Hugo W. Moser,Hugo W. Moser +8 more
TL;DR: The neuroanatomy of 11 females with Rett syndrome and 15 age‐ and gender‐matched control subjects ws investigated in vivo with quantitative neuroimaging techniques, finding significantly reduced cerebral volume; evidence of greater loss of gray matter in comparison to white matter; and reduced volume of the caudate nucleus and midbrain.