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

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

(2014) Sabine Fischer et al.   JOURNAL OF INHERITED METABOLIC DISEASE

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

(2013) Shinji Kunishima et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Role for Glutathione Transferase Omega 1 (GSTO1-1) in the Glutathionylation Cycle

(2013) Deepthi Menon et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Glutathione metabolism in cobalamin deficiency type C (cblC)

(2013) Anna Pastore et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2013) I.Vaz Matos et al.   MOLECULAR GENETICS AND METABOLISM

Differential proteomic analysis in human cells subjected to ribosomal stress

(2013) Marianna Caterino et al.   PROTEOMICS

The Protein Disulfide Isomerase Family: Key Players in Health and Disease

(2011) Adam M. Benham   ANTIOXIDANTS & REDOX SIGNALING

The MMACHC proteome: Hallmarks of functional cobalamin deficiency in humans

(2011) Luciana Hannibal et al.   MOLECULAR GENETICS AND METABOLISM

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

(2011) Andras Perl et al.   TRENDS IN MOLECULAR MEDICINE

Cobalamin C defect presenting as severe neonatal hyperammonemia

(2010) Diego Martinelli et al.   EUROPEAN JOURNAL OF PEDIATRICS

Cobalamin C defect: natural history, pathophysiology, and treatment

(2010) Diego Martinelli et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Succinate dehydrogenase – Assembly, regulation and role in human disease

(2010) Jared Rutter et al.   MITOCHONDRION

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

(2010) A. Le et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transcription Factor TBX1 Overexpression Induces Downregulation of Proteins Involved in Retinoic Acid Metabolism: A Comparative Proteomic Analysis

(2009) Marianna Caterino et al.   JOURNAL OF PROTEOME RESEARCH

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

(2009) D.S. Froese et al.   MOLECULAR GENETICS AND METABOLISM

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

(2009) Luciana Hannibal et al.   MOLECULAR GENETICS AND METABOLISM

Decyanation of vitamin B12 by a trafficking chaperone

(2008) J. Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA