The CALM–AF10 fusion is a rare event in acute megakaryoblastic leukemia

Greiner, Oliver; Bornhäuser, Beat; Delabesse, Éric; Ballerini, Paola; Landman‐Parker, Judith; Bourquin, Jean‐Pierre

doi:10.1038/sj.leu.2404835

Cited by 1 publication

(1 citation statement)

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“…PICALM was initially implicated to be involved in acute myeloid leukemia and acute lymphoblastic leukemia by creating a PICALM/AF10 fusion gene through a rare translocation (t(10;11)(p13;q14)) [26,27]. In addition to potential roles in growth, haematopoiesis and iron metabolism [18,28,29], the gene product (PICALM) play a major role in clathrinmediated endocytosis (CME) [20], a process which is further associated with modulation of protein component of the plasma membrane, management of the distribution of the receptors, removal of apoptotic cells, promotion of sustained neurotransmission [30] as well as the APP metabolism [31,32], which may be pivotal in AD pathological formation.…”

Section: Biochemical Properties Of Picalmmentioning

confidence: 99%

The Role of PICALM in Alzheimer’s Disease

Tan

2014

Mol Neurobiol

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Alzheimer's disease (AD) is a highly heritable disease (with heritability up to 76%) with a complex genetic profile of susceptibility, among which large genome-wide association studies (GWASs) pointed to the phosphatidylinositol-binding clathrin assembly protein (PICALM) gene as a susceptibility locus for late-onset Alzheimer's disease (LOAD) incidence. Here, we summarize the known functions of PICALM and discuss its genetic polymorphisms and their potential physiological effects associated with LOAD. Compelling data indicated that PICALM affects AD risk primarily by modulating production, transportation, and clearance of β-amyloid (Aβ) peptide, but other Aβ-independent pathways are discussed, including tauopathy, synaptic dysfunction, disorganized lipid metabolism, immune disorder, and disrupted iron homeostasis. Finally, given the potential involvement of PICALM in facilitating AD occurrence in multiple ways, it might be possible that targeting PICALM might provide promising and novel avenues for AD therapy.

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Section: Biochemical Properties Of Picalmmentioning

confidence: 99%

The Role of PICALM in Alzheimer’s Disease

Tan

2014

Mol Neurobiol

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The CALM–AF10 fusion is a rare event in acute megakaryoblastic leukemia

Cited by 1 publication

References 6 publications

The Role of PICALM in Alzheimer’s Disease

The Role of PICALM in Alzheimer’s Disease

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