A novel neurodegenerative spectrum disorder in patients with MLKL deficiency

Necroptosis mediators RIPK3 and MLKL suppress intracellular Listeria replication independently of host cell killing

(2019) Kazuhito Sai et al.   JOURNAL OF CELL BIOLOGY

H7N9 influenza A virus activation of necroptosis in human monocytes links innate and adaptive immune responses

(2019) Andrew C. Y. Lee et al.   Cell Death & Disease

Novel drug discovery strategies for atherosclerosis that target necrosis and necroptosis

(2018) Isabelle Coornaert et al.   Expert Opinion on Drug Discovery

Diagnosis of multiple sclerosis: 2017 revisions of the McDonald criteria

(2018) Alan J Thompson et al.   LANCET NEUROLOGY

A rare variant in MLKL confers susceptibility to ApoE ɛ4-negative Alzheimer's disease in Hong Kong Chinese population

(2018) Binbin Wang et al.   NEUROBIOLOGY OF AGING

BiallelicRIPK1mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation

(2018) Delphine Cuchet-Lourenço et al.   SCIENCE

Mixed Lineage Kinase Domain-like Protein MLKL Breaks Down Myelin following Nerve Injury

(2018) Zhengxin Ying et al.   MOLECULAR CELL

Necroptosis and RIPK1-mediated neuroinflammation in CNS diseases

(2018) Junying Yuan et al.   NATURE REVIEWS NEUROSCIENCE

Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases

(2018) Yue Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MLKL, the Protein that Mediates Necroptosis, Also Regulates Endosomal Trafficking and Extracellular Vesicle Generation

(2017) Seongmin Yoon et al.   IMMUNITY

Necroptosis activation in Alzheimer's disease

(2017) Antonella Caccamo et al.   NATURE NEUROSCIENCE

Ocrelizumab versus Placebo in Primary Progressive Multiple Sclerosis

(2017) Xavier Montalban et al.   NEW ENGLAND JOURNAL OF MEDICINE

Active MLKL triggers the NLRP3 inflammasome in a cell-intrinsic manner

(2017) Stephanie A. Conos et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms

(2017) Andrea Markovinovic et al.   PROGRESS IN NEUROBIOLOGY

EspL is a bacterial cysteine protease effector that cleaves RHIM proteins to block necroptosis and inflammation

(2017) Jaclyn S. Pearson et al.   Nature Microbiology

The pseudokinase MLKL mediates programmed hepatocellular necrosis independently of RIPK3 during hepatitis

(2016) Claudia Günther et al.   JOURNAL OF CLINICAL INVESTIGATION

Sequential Engagement of Distinct MLKL Phosphatidylinositol-Binding Sites Executes Necroptosis

(2016) Giovanni Quarato et al.   MOLECULAR CELL

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

RIPK1 mediates axonal degeneration by promoting inflammation and necroptosis in ALS

(2016) Yasushi Ito et al.   SCIENCE

Necroptosis Promotes Staphylococcus aureus Clearance by Inhibiting Excessive Inflammatory Signaling

(2016) Kipyegon Kitur et al.   Cell Reports

Targeting macrophage necroptosis for therapeutic and diagnostic interventions in atherosclerosis

(2016) D. Karunakaran et al.   Science Advances

Herpes Simplex Virus Suppresses Necroptosis in Human Cells

(2015) Hongyan Guo et al.   Cell Host & Microbe

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Suppression of RIP3-dependent Necroptosis by Human Cytomegalovirus

(2015) Shinya Omoto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

(2015) Jenny C Taylor et al.   NATURE GENETICS

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

Nonsense-mediated mRNA decay: an intricate machinery that shapes transcriptomes

(2015) Søren Lykke-Andersen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Activation of Necroptosis in Multiple Sclerosis

(2015) Dimitry Ofengeim et al.   Cell Reports

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Necroptosis

(2014) Andreas Linkermann et al.   NEW ENGLAND JOURNAL OF MEDICINE

Direct activation of RIP3/MLKL-dependent necrosis by herpes simplex virus 1 (HSV-1) protein ICP6 triggers host antiviral defense

(2014) X. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Activation of the pseudokinase MLKL unleashes the four-helix bundle domain to induce membrane localization and necroptotic cell death

(2014) Joanne M. Hildebrand et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TNF Dually Mediates Resistance and Susceptibility to Mycobacteria via Mitochondrial Reactive Oxygen Species

(2013) Francisco J. Roca et al.   CELL

Mlkl knockout mice demonstrate the indispensable role of Mlkl in necroptosis

(2013) Jianfeng Wu et al.   CELL RESEARCH

Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

(2013) S. Donkervoort et al.   CLINICAL GENETICS

SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization ofFA2Hgene mutations

(2013) X. Liao et al.   CLINICAL GENETICS

AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

(2013) Pierre Cacciagli et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Pseudokinase MLKL Mediates Necroptosis via a Molecular Switch Mechanism

(2013) James M. Murphy et al.   IMMUNITY

Plasma membrane translocation of trimerized MLKL protein is required for TNF-induced necroptosis

(2013) Zhenyu Cai et al.   NATURE CELL BIOLOGY

Interferon-induced RIP1/RIP3-mediated necrosis requires PKR and is licensed by FADD and caspases

(2013) R. J. Thapa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mixed Lineage Kinase Domain-like Protein Mediates Necrosis Signaling Downstream of RIP3 Kinase

(2012) Liming Sun et al.   CELL

TNF receptor 1 genetic risk mirrors outcome of anti-TNF therapy in multiple sclerosis

(2012) Adam P. Gregory et al.   NATURE

Type I interferon induces necroptosis in macrophages during infection with Salmonella enterica serovar Typhimurium

(2012) Nirmal Robinson et al.   NATURE IMMUNOLOGY

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia

(2011) Lucia Ballarati et al.   European Journal of Medical Genetics

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

(2010) Michael C. Kruer et al.   ANNALS OF NEUROLOGY

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)

(2010) Katherine J. Dick et al.   HUMAN MUTATION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

(2008) Simon Edvardson et al.   AMERICAN JOURNAL OF HUMAN GENETICS