Sphingolipid metabolism in cancer signalling and therapy

B Ogretmen - Nature Reviews Cancer, 2018 - nature.com
Sphingolipids, including the two central bioactive lipids ceramide and sphingosine-1-
phosphate (S1P), have opposing roles in regulating cancer cell death and survival …

A review of Gaucher disease pathophysiology, clinical presentation and treatments

J Stirnemann, N Belmatoug, F Camou… - International journal of …, 2017 - mdpi.com
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is
caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an …

Cell of origin and genetic alterations in the pathogenesis of multiple myeloma

BG Barwick, VA Gupta, PM Vertino… - Frontiers in …, 2019 - frontiersin.org
B cell activation and differentiation yields plasma cells with high affinity antibodies to a given
antigen in a time-frame that allows for host protection. Although the end product is most …

Natural killer T cells in cancer immunotherapy

S Nair, MV Dhodapkar - Frontiers in immunology, 2017 - frontiersin.org
Natural killer T (NKT) cells are specialized CD1d-restricted T cells that recognize lipid
antigens. Following stimulation, NKT cells lead to downstream activation of both innate and …

Lysosomal storage disorders–challenges, concepts and avenues for therapy: beyond rare diseases

ARA Marques, P Saftig - Journal of cell science, 2019 - journals.biologists.com
The pivotal role of lysosomes in cellular processes is increasingly appreciated. An
understanding of the balanced interplay between the activity of acidic hydrolases, lysosomal …

Timing the initiation of multiple myeloma

EH Rustad, V Yellapantula, D Leongamornlert… - Nature …, 2020 - nature.com
The evolution and progression of multiple myeloma and its precursors over time is poorly
understood. Here, we investigate the landscape and timing of mutational processes shaping …

Multiple myeloma cells induce lipolysis in adipocytes and uptake fatty acids through fatty acid transporter proteins

C Panaroni, K Fulzele, T Mori, KT Siu… - Blood, The Journal …, 2022 - ashpublications.org
Adipocytes occupy 70% of the cellular volume within the bone marrow (BM) wherein
multiple myeloma (MM) originates and resides. However, the nature of the interaction …

Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease

MK Pandey, TA Burrow, R Rani, LJ Martin, D Witte… - Nature, 2017 - nature.com
Gaucher disease is caused by mutations in GBA1, which encodes the lysosomal enzyme
glucocerebrosidase (GCase). GBA1 mutations drive extensive accumulation of …

Gaucher disease in bone: from pathophysiology to practice

D Hughes, P Mikosch, N Belmatoug… - Journal of Bone and …, 2019 - academic.oup.com
Gaucher disease (GD) is a rare, genetic lysosomal disorder leading to lipid accumulation
and dysfunction in multiple organs. Involvement of the skeleton is one of the most prevalent …

MGUS to myeloma: a mysterious gammopathy of underexplored significance

MV Dhodapkar - Blood, The Journal of the American Society of …, 2016 - ashpublications.org
All cases of multiple myeloma (MM) are preceded by precursor states termed monoclonal
gammopathy of undetermined significance (MGUS) or smoldering myeloma (SMM). Genetic …