The road to lysosome‐related organelles: Insights from Hermansky‐Pudlak syndrome and other rare diseases

SL Bowman, J Bi‐Karchin, L Le, MS Marks - Traffic, 2019 - Wiley Online Library
Lysosome‐related organelles (LROs) comprise a diverse group of cell type‐specific,
membrane‐bound subcellular organelles that derive at least in part from the endolysosomal …

Tumor-Derived Extracellular Vesicles Breach the Intact Blood–Brain Barrier via Transcytosis

G Morad, CV Carman, EJ Hagedorn, JR Perlin, LI Zon… - ACS …, 2019 - ACS Publications
The restrictive nature of the blood–brain barrier (BBB) creates a major challenge for brain
drug delivery with current nanomedicines lacking the ability to cross the BBB. Extracellular …

Zinc homeostasis in platelet-related diseases

E Mammadova-Bach, A Braun - International journal of molecular …, 2019 - mdpi.com
Zn2+ deficiency in the human population is frequent in underdeveloped countries.
Worldwide, approximatively 2 billion people consume Zn2+-deficient diets, accounting for 1 …

Megakaryocytes package contents into separate α-granules that are differentially distributed in platelets

EM Battinelli, JN Thon, R Okazaki, CG Peters… - Blood …, 2019 - ashpublications.org
In addition to their primary roles in hemostasis and thrombosis, platelets participate in many
other physiological and pathological processes, including, but not limited to inflammation …

NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells

L Delage, F Carbone, Q Riller, JL Zachayus… - Nature …, 2023 - nature.com
Loss of NBEAL2 function leads to grey platelet syndrome (GPS), a bleeding disorder
characterized by macro-thrombocytopenia and α-granule-deficient platelets. A proportion of …

Orchestration of primary hemostasis by platelet and endothelial lysosome-related organelles

E Karampini, R Bierings, J Voorberg - … , thrombosis, and vascular …, 2020 - Am Heart Assoc
Megakaryocyte-derived platelets and endothelial cells store their hemostatic cargo in α-and
δ-granules and Weibel-Palade bodies, respectively. These storage granules belong to the …

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

MC Sims, L Mayer, JH Collins… - Blood, The Journal …, 2020 - ashpublications.org
Gray platelet syndrome (GPS) is a rare recessive disorder caused by biallelic variants in
NBEAL2 and characterized by bleeding symptoms, the absence of platelet α-granules …

Clinical significance of altered collagen-receptor functioning in platelets with emphasis on glycoprotein VI

AT Nurden - Blood Reviews, 2019 - Elsevier
Much interest surrounds the receptors α2β1 and glycoprotein VI (GPVI) whose synchronized
action mediates the attachment and activation of platelets on collagen, essential for …

Thrombocytopathies: not just aggregation defects—the clinical relevance of procoagulant platelets

A Aliotta, D Bertaggia Calderara, MG Zermatten… - Journal of clinical …, 2021 - mdpi.com
Platelets are active key players in haemostasis. Qualitative platelet dysfunctions result in
thrombocytopathies variously characterized by defects of their adhesive and procoagulant …

Neutrophil specific granule and NETosis defects in gray platelet syndrome

CEM Aarts, K Downes, AJ Hoogendijk… - Blood …, 2021 - ashpublications.org
Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder characterized by
a lack of α-granules in platelets and progressive myelofibrosis. Rare loss-of-function variants …