Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1

Unbiased yeast screens identify cellular pathways affected in Niemann–Pick disease type C

(2020) Alexandria Colaco et al.   Life Science Alliance

Anemia of Inflammation

(2019) Tomas Ganz   NEW ENGLAND JOURNAL OF MEDICINE

Iron deficiency anaemia revisited

(2019) M. D. Cappellini et al.   JOURNAL OF INTERNAL MEDICINE

NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress

(2019) D. Höglinger et al.   Nature Communications

Impaired lysosomal acidification triggers iron deficiency and inflammation in vivo

(2019) King Faisal Yambire et al.   eLife

Lysosomal storage diseases

(2018) Frances M. Platt et al.   Nature Reviews Disease Primers

Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications

(2016) Martine Regenboog et al.   BLOOD REVIEWS

Macrophages and Iron Metabolism

(2016) Miguel P. Soares et al.   IMMUNITY

Anaemia of Chronic Disease: An In-Depth Review

(2016) Anazoeze Jude Madu et al.   MEDICAL PRINCIPLES AND PRACTICE

On-demand erythrocyte disposal and iron recycling requires transient macrophages in the liver

(2016) Igor Theurl et al.   NATURE MEDICINE

Hepcidin: regulation of the master iron regulator

(2015) Gautam Rishi et al.   BIOSCIENCE REPORTS

Cardiac ferroportin regulates cellular iron homeostasis and is important for cardiac function

(2015) Samira Lakhal-Littleton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification of NPC1 as the target of U18666A, an inhibitor of lysosomal cholesterol export and Ebola infection

(2015) Feiran Lu et al.   eLife

Hepatic metabolic response to restricted copper intake in a Niemann–Pick C murine model

(2014) Graciela Argüello et al.   Metallomics

Quantitative proteomics identifies NCOA4 as the cargo receptor mediating ferritinophagy

(2014) Joseph D. Mancias et al.   NATURE

Of macrophages and red blood cells; a complex love story

(2014) Djuna Z. de Back et al.   Frontiers in Physiology

Altered transition metal homeostasis in Niemann–Pick disease, type C1

(2013) Ya Hui Hung et al.   Metallomics

Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA)

(2012) Susanne A. Schneider et al.   JOURNAL OF NEURAL TRANSMISSION

Distinct Mechanisms of Ferritin Delivery to Lysosomes in Iron-Depleted and Iron-Replete Cells

(2011) T. Asano et al.   MOLECULAR AND CELLULAR BIOLOGY

Autophagy, ferritin and iron chelation

(2010) Ivana De Domenico et al.   Autophagy

Antihepcidin antibody treatment modulates iron metabolism and is effective in a mouse model of inflammation-induced anemia

(2010) B. J. Sasu et al.   BLOOD

Detection, evaluation, and management of iron-restricted erythropoiesis

(2010) L. T. Goodnough et al.   BLOOD

Two to Tango: Regulation of Mammalian Iron Metabolism

(2010) Matthias W. Hentze et al.   CELL

Mucolipins: Intracellular TRPML1-3 channels

(2010) Xiping Cheng et al.   FEBS LETTERS

Diagnosis and management of iron deficiency anemia in patients with IBD

(2010) Jürgen Stein et al.   Nature Reviews Gastroenterology & Hepatology

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Mitochondrial iron trafficking and the integration of iron metabolism between the mitochondrion and cytosol

(2010) D. R. Richardson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lipids on Trial: The Search for the Offending Metabolite in Niemann-Pick type C Disease

(2010) Emyr Lloyd-Evans et al.   TRAFFIC

Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C

(2009) Nicole M. Yanjanin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

(2009) Paul Saftig et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Critical role of iron in the pathogenesis of the murine gangliosidoses

(2009) Mylvaganam Jeyakumar et al.   NEUROBIOLOGY OF DISEASE

Resolving the distinct stages in erythroid differentiation based on dynamic changes in membrane protein expression during erythropoiesis

(2009) K. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CD47 on experimentally senescent murine RBCs inhibits phagocytosis following Fc  receptor-mediated but not scavenger receptor-mediated recognition by macrophages

(2008) M. Olsson et al.   BLOOD

Niemann-Pick C1 protein transports copper to the secretory compartment from late endosomes where ATP7B resides

(2008) Chikatoshi Yanagimoto et al.   EXPERIMENTAL CELL RESEARCH

A role for lysosomes in the turnover of human iron regulatory protein 2

(2008) Camille Dycke et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

(2008) Emyr Lloyd-Evans et al.   NATURE MEDICINE

Regulation of iron acquisition and storage: consequences for iron-linked disorders

(2007) Ivana De Domenico et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY