Christopher Balak
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View article: Mechanisms driving epigenetic and transcriptional responses of microglia in a neurodegenerative lysosomal storage disorder model
Mechanisms driving epigenetic and transcriptional responses of microglia in a neurodegenerative lysosomal storage disorder model Open
Lysosomal dysfunction is causally linked to neurodegeneration in many lysosomal storage disorders (LSDs) and is associated with various age-related neurodegenerative diseases 1,2 , but there is limited understanding of the mechanisms by wh…
View article: Lysosomes cell autonomously regulate myeloid cell states and immune responses
Lysosomes cell autonomously regulate myeloid cell states and immune responses Open
Myeloid cells maintain tissue homeostasis via the recognition, engulfment, and lysosomal clearance of dying cells and cellular debris, which is often accompanied by changes from homeostatic to reactive states. While a role for phagocytic r…
View article: The inactive X chromosome drives sex differences in microglial inflammatory activity in human glioblastoma
The inactive X chromosome drives sex differences in microglial inflammatory activity in human glioblastoma Open
Whether an individual is a biological female or male affects cancer risk, but the responsible mechanisms and cell types remain obscure. Glioblastoma multiforme (GBM) is a male-biased cancer that is highly aggressive, and resistant to treat…
View article: SALL1 enforces microglia-specific DNA binding and function of SMADs to establish microglia identity
SALL1 enforces microglia-specific DNA binding and function of SMADs to establish microglia identity Open
Spalt-like transcription factor 1 (SALL1) is a critical regulator of organogenesis and microglia identity. Here we demonstrate that disruption of a conserved microglia-specific super-enhancer interacting with the Sall1 promoter results in …
View article: Integrated phenotypic and mutational approach defines EBF3-related HADD syndrome genotype-phenotype relationships
Integrated phenotypic and mutational approach defines EBF3-related HADD syndrome genotype-phenotype relationships Open
Hypotonia, Ataxia, and Delayed Development syndrome is a neurodevelopmental disorder caused by heterozygous Early B-Cell Factor 3 ( EBF3 ) loss-of-function variants. Identified in 2016, the full spectrum of clinical findings and the relati…
View article: <i>FBXO28</i> causes developmental and epileptic encephalopathy with profound intellectual disability
<i>FBXO28</i> causes developmental and epileptic encephalopathy with profound intellectual disability Open
Chromosome 1q41‐q42 deletion syndrome is a rare cause of intellectual disability, seizures, dysmorphology, and multiple anomalies. Two genes in the 1q41‐q42 microdeletion, WDR26 and FBXO28 , have been implicated in monogenic disease. Patie…
View article: Novel pathogenic variants and genes for myopathies identified by whole exome sequencing
Novel pathogenic variants and genes for myopathies identified by whole exome sequencing Open
Neuromuscular diseases ( NMD ) account for a significant proportion of infant and childhood mortality and devastating chronic disease. Determining the specific diagnosis of NMD is challenging due to thousands of unique or rare genetic vari…