The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans (Q63199067)

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27 February 2020

title

The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans (English)

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27 February 2020

2

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Gianna Di Giovamberardino

27 February 2020

4

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27 February 2020

Carlo Dionisi-Vici

11

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5

Esther Imperlini

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27 February 2020

author name string

Marianna Caterino

1

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27 February 2020

Maria Grazia Strozziero

3

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27 February 2020

Emanuela Scolamiero

6

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27 February 2020

Laura Ingenito

7

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27 February 2020

Sara Boenzi

8

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27 February 2020

Ferdinando Ceravolo

9

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27 February 2020

Diego Martinelli

10

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27 February 2020

Margherita Ruoppolo

12

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27 February 2020

publication date

14 January 2015

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Journal of Inherited Metabolic Disease

27 February 2020

published in

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volume

38

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27 February 2020

page(s)

969-979

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27 February 2020

issue

5

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https://scigraph.springernature.com/pub.10.1007/s10545-014-9806-4

27 February 2020

exact match

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cites work

Annexins: linking Ca2+ signalling to membrane dynamics

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12 December 2020

Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene

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Cobalamin C defect: natural history, pathophysiology, and treatment.

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Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria

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12 December 2020

Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations

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SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

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ACTN1 mutations cause congenital macrothrombocytopenia

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Oxidative stress, inflammation and carcinogenesis are controlled through the pentose phosphate pathway by transaldolase

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Decyanation of vitamin B12 by a trafficking chaperone

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Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

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Transcription factor TBX1 overexpression induces downregulation of proteins involved in retinoic acid metabolism: a comparative proteomic analysis.

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Expression of the mitotic kinesin Kif15 in postmitotic neurons: Implications for neuronal migration and development

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12 December 2020

A role for glutathione transferase Omega 1 (GSTO1-1) in the glutathionylation cycle

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12 December 2020

The pathobiology of the septin gene family

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12 December 2020

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

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12 December 2020

Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product

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12 December 2020

Succinate dehydrogenase - Assembly, regulation and role in human disease

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Cobalamin C defect presenting as severe neonatal hyperammonemia

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The alpha-ketoglutarate dehydrogenase complex in neurodegeneration

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Glutathione metabolism in cobalamin deficiency type C (cblC).

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Metabolic changes associated with hyperammonemia in patients with propionic acidemia.

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Inhibition of lactate dehydrogenase A induces oxidative stress and inhibits tumor progression

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The protein disulfide isomerase family: key players in health and disease

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Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency.

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The cytoskeleton and related proteins in the human failing heart

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Contribution of somal Lewy bodies to neuronal death.

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Differential proteomic analysis in human cells subjected to ribosomal stress

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Fully automated assay for total homocysteine, cysteine, cysteinylglycine, glutathione, cysteamine, and 2-mercaptopropionylglycine in plasma and urine.

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12 December 2020

Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria

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12 December 2020

Annexins: the problem of assessing the biological role for a gene family of multifunctional calcium- and phospholipid-binding proteins

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12 December 2020

Assessment of visual function in children with methylmalonic aciduria and homocystinuria.

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12 December 2020

The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans.

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12 December 2020

Pharmacological prevention of Parkinson disease in Drosophila.

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12 December 2020