Shigekazu Nagata

Four subtypes of disease-causing missense mutations underlie pathogenic protein interactions in neurodegenerative VPS13A disease

Xing Lin, Yuta Ryoden, Chigure Suzuki, Hiroyuki Ishikawa et autres

VPS13A is an intracellular lipid transfer protein comprising more than 3,000 amino acids. Mutations in human VPS13A cause VPS13A disease, a neurodegenerative disorder that affects movement and cognition. VPS13A forms a complex with the membrane protein XK to mediate ATP-induced phospholipid scrambling …

jp (code pays fourni par la source)

Towards a molecular and structural definition of cell death

Eli Arama, Katia Cosentino, Peter E. Czabotar, Boyi Gan et autres

il, it, au, us, jp, cn (code pays fourni par la source)

Time for lipid cell biology

Xiaowei Chen, Anthony S. Don, Maria Fedorova, T. HARAYAMA et autres

cn, au, de, fr, jp, us, sg (code pays fourni par la source)

Author response: ACK1 and BRK non-receptor tyrosine kinase deficiencies are associated with familial systemic lupus and involved in efferocytosis

S. Guillet, Tomi Lazarov, Natasha Jordan, Bertrand Boisson et autres

Loss-of-function variants of human ACK1 and BRK kinase underlie systemic lupus erythematosus in young patients from multiplex families and disrupt the anti-inflammatory response of macrophages to apoptotic cells.

us, gb, ca, jp, fr, es, Maurice, de (code pays fourni par la source)

ACK1 and BRK non-receptor tyrosine kinase deficiencies are associated with familial systemic lupus and involved in efferocytosis

S. Guillet, Tomi Lazarov, Natasha Jordan, Bertrand Boisson et autres

Systemic lupus erythematosus (SLE) is an autoimmune disease, the pathophysiology and genetic basis of which are incompletely understood. Using a forward genetic screen in multiplex families with SLE, we identified an association between SLE and compound heterozygous deleterious variants in the non-receptor …

us, fr, gb, jp, il, es, Maurice, de, ca (code pays fourni par la source)

Substrate specificity controlled by the exit site of human P4-ATPases, revealed by de novo point mutations in neurological disorders

David Calianese, Tomoyasu Noji, Jennifer A. Sullivan, Kelly Schoch et autres

The maintenance of lipid asymmetry on the plasma membrane is regulated by flippases, such as ATP8A2, ATP11A, and ATP11C, which translocate phosphatidylserine and phosphatidylethanolamine from the outer leaflet to the inner leaflet. We previously identified a patient-derived point mutation (Q84E) in ATP11A …

jp, us, ca, be, bg, pk (code pays fourni par la source)

Membrane structure-responsive lipid scrambling by TMEM63B to control plasma membrane lipid distribution

Yugo Miyata, Katsuya Takahashi, Yongchan Lee, Cheryl S. Sultan et autres

Phospholipids are asymmetrically distributed in the plasma membrane (PM), with phosphatidylcholine and sphingomyelin abundant in the outer leaflet. However, the mechanisms by which their distribution is regulated remain unclear. Here, we show that transmembrane protein 63B (TMEM63B) functions as a membrane structure-responsive …

jp (code pays fourni par la source)

Author response: ACK1 and BRK non-receptor tyrosine kinase deficiencies are associated with familial systemic lupus and involved in efferocytosis

S. Guillet, Tomi Lazarov, Natasha Jordan, Bertrand Boisson et autres

Systemic Lupus Erythematosus (SLE) is an autoimmune disease, the pathophysiology and genetic basis of which are incompletely understood. Using a forward genetic screen in multiplex families with systemic lupus erythematosus (SLE) we identified an association between SLE and compound heterozygous deleterious variants …

us, gb, jp, il, fr, es, Maurice, de (code pays fourni par la source)

ACK1 and BRK non-receptor tyrosine kinase deficiencies are associated with familial systemic lupus and involved in efferocytosis

S. Guillet, Tomi Lazarov, Natasha Jordan, Bertrand Boisson et autres

Abstract Systemic Lupus Erythematosus (SLE) is an autoimmune disease, the pathophysiology and genetic basis of which are incompletely understood. Using a forward genetic screen in multiplex families with systemic lupus erythematosus (SLE) we identified an association between SLE and compound heterozygous deleterious …

us, fr, gb, jp, il, es, Maurice, de, ca (code pays fourni par la source)

ACK1 and BRK non-receptor tyrosine kinase deficiencies are associated with familial systemic lupus and involved in efferocytosis

S. Guillet, Tomi Lazarov, Natasha Jordan, Bertrand Boisson et autres

Systemic lupus erythematosus (SLE) is an autoimmune disease, the pathophysiology and genetic basis of which are incompletely understood. Using a forward genetic screen in multiplex families with SLE, we identified an association between SLE and compound heterozygous deleterious variants in the non-receptor …

us, fr, gb, jp, il, es, Maurice, de, ca (code pays fourni par la source)

ACK1 and BRK non-receptor tyrosine kinase deficiencies are associated with familial systemic lupus and involved in efferocytosis

S. Guillet, Tomi Lazarov, Natasha Jordan, Bertrand Boisson et autres

Abstract Systemic Lupus Erythematosus (SLE) is an autoimmune disease, the pathophysiology and genetic basis of which are incompletely understood. Non-receptor tyrosine kinases (NRTKs) regulate activation, migration, and proliferation of immune cells. We report compound heterozygous deleterious variants in the kinase domains of …

us, fr, gb, jp, il, es, Maurice, de, ca (code pays fourni par la source)

ACK1 and BRK non-receptor tyrosine kinase deficiencies are associated with familial systemic lupus and involved in efferocytosis

S. Guillet, Tomi Lazarov, Natasha Jordan, Bertrand Boisson et autres

ABSTRACT Systemic Lupus Erythematosus (SLE) is an autoimmune disease, the pathophysiology and genetic basis of which are incompletely understood. Using a forward genetic screen in multiplex families with systemic lupus erythematosus (SLE) we identified an association between SLE and compound heterozygous deleterious …

us, fr, gb, jp, il, es, Maurice, de (code pays fourni par la source)