Yonatan Perez
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View article: Fate plasticity of interneuron specification
Fate plasticity of interneuron specification Open
Neuronal subtype generation in the mammalian central nervous system is governed by competing genetic programs. The medial ganglionic eminence (MGE) produces two major cortical interneuron (IN) populations, somatostatin (Sst) and parvalbumi…
View article: Specific Point Mutations in the RRT5 Gene Modulate Fermentative Phenotypes of an Industrial Wine Yeast
Specific Point Mutations in the RRT5 Gene Modulate Fermentative Phenotypes of an Industrial Wine Yeast Open
Saccharomyces cerevisiae is a yeast species of industrial importance due to its role in the production of several alcoholic beverages, including wine. During wine fermentation, S. cerevisiae must be able to cope with several stresses, such…
View article: Adhesion G protein-coupled receptor ADGRG1 promotes protective microglial response in Alzheimer’s disease
Adhesion G protein-coupled receptor ADGRG1 promotes protective microglial response in Alzheimer’s disease Open
Germline genetic architecture of Alzheimer’s disease (AD) indicates microglial mechanisms of disease susceptibility and outcomes. However, the mechanisms that enable microglia to mediate protective responses to AD pathology remain elusive.…
View article: Fate plasticity of interneuron specification
Fate plasticity of interneuron specification Open
The generation of neuronal subtypes in the mammalian central nervous system is driven by competing genetic programs. The medial ganglionic eminence (MGE) gives rise to two major cortical interneuron (cIN) populations, marked by Somatostati…
View article: Single-cell analysis of prenatal and postnatal human cortical development
Single-cell analysis of prenatal and postnatal human cortical development Open
We analyzed >700,000 single-nucleus RNA sequencing profiles from 106 donors during prenatal and postnatal developmental stages and identified lineage-specific programs that underlie the development of specific subtypes of excitatory cortic…
View article: Single cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism
Single cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism Open
Duplication 15q (dup15q) syndrome is the most common genetic cause of autism spectrum disorder (ASD). Due to a higher genetic and phenotypic homogeneity compared to idiopathic autism, dup15q syndrome provides a well-defined setting to inve…
View article: IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma Open
Genomic sequences residing within introns of few genes have been shown to act as enhancers affecting expression of neighboring genes. We studied an autosomal recessive phenotypic continuum of microphthalmia, anophthalmia and ocular colobom…
View article: Limb girdle muscular disease caused by <i>HMGCR</i> mutation and statin myopathy treatable with mevalonolactone
Limb girdle muscular disease caused by <i>HMGCR</i> mutation and statin myopathy treatable with mevalonolactone Open
Myopathy is the main adverse effect of the widely prescribed statin drug class. Statins exert their beneficial effect by inhibiting HMG CoA-reductase, the rate-controlling enzyme of the mevalonate pathway. The mechanism of statin myopathy …
View article: A cross-species proteomic map reveals neoteny of human synapse development
A cross-species proteomic map reveals neoteny of human synapse development Open
The molecular mechanisms and evolutionary changes accompanying synapse development are still poorly understood. Here, we generated a cross-species proteomic map of synapse development in the human, macaque, and mouse neocortex. By tracking…
View article: Single-cell analysis of prenatal and postnatal human cortical development
Single-cell analysis of prenatal and postnatal human cortical development Open
We analyze more than 700,000 single-nucleus RNA-seq profiles from 106 donors during prenatal and postnatal developmental stages and identify lineage-specific programs that underlie the development of specific subtypes of excitatory cortica…
View article: Tropism of SARS-CoV-2 for human cortical astrocytes
Tropism of SARS-CoV-2 for human cortical astrocytes Open
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) readily infects a variety of cell types impacting the function of vital organ systems, with particularly severe impact on respiratory function. Neurological symptoms, which r…
View article: The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences Open
Compared to albinism, the FHONDA syndrome appears to have a more narrow phenotypic spectrum, consisting of nonprogressive moderately to severely reduced VA, nystagmus, severe foveal hypoplasia, and misrouting. The co-occurrence of nystagmu…
View article: Tropism of SARS-CoV-2 for Developing Human Cortical Astrocytes
Tropism of SARS-CoV-2 for Developing Human Cortical Astrocytes Open
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) readily infects a variety of cell types impacting the function of vital organ systems, with particularly severe impact on respiratory function. It proves fatal for one percen…
View article: Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase
Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase Open
Gout is caused by deposition of monosodium urate crystals in joints when plasma uric acid levels are chronically elevated beyond the saturation threshold, mostly due to renal underexcretion of uric acid. Although molecular pathways of this…
View article: Single-cell genomics identifies cell type–specific molecular changes in autism
Single-cell genomics identifies cell type–specific molecular changes in autism Open
Brain cell transcriptomes in autism Autism manifests in many ways. Despite that diversity, the disorder seems to affect specific cellular pathways, including those observed in the neocortex of patients' brains. Velmeshev et al. analyzed th…
View article: Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish
Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish Open
Microtubule associated protein 11 (MAP11, previously termed C7orf43) encodes a highly conserved protein whose function is unknown. Through genome-wide linkage analysis combined with whole exome sequencing, we demonstrate that human autosom…
View article: Nocturnal Atrial Fibrillation Caused by Mutation in <i>KCND2</i> , Encoding Pore-Forming (α) Subunit of the Cardiac Kv4.2 Potassium Channel
Nocturnal Atrial Fibrillation Caused by Mutation in <i>KCND2</i> , Encoding Pore-Forming (α) Subunit of the Cardiac Kv4.2 Potassium Channel Open
Background: Paroxysmal atrial fibrillation (AF) can be caused by gain-of-function mutations in genes, encoding the cardiac potassium channel subunits KCNJ2 , KCNE1 , and KCNH2 that mediate the repolarizing potassium currents I k1 , I ks , …
View article: RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3
RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3 Open
RSRC1, whose polymorphism is associated with altered brain function in schizophrenia, is a member of the serine and arginine rich-related protein family. Through homozygosity mapping and whole exome sequencing we show that RSRC1 mutation c…
View article: SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome
SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome Open
A novel autosomal recessive cerebro-renal syndrome was identified in consanguineous Bedouin kindred: neurological deterioration was evident as of early age, progressing into severe intellectual disability, profound ataxia, camptocormia and…
View article: A Rare Variant in<i> PGAP2</i> Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers
A Rare Variant in<i> PGAP2</i> Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers Open
Mutations in genes involved in the biosynthesis of the glycosylphosphatidylinositol (GPI) anchor cause autosomal recessive glycosylation defects, with a wide phenotypic spectrum of intellectual disability, seizures, minor facial dysmorphis…
View article: ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size
ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size Open
Primary microcephaly is a congenital neurodevelopmental disorder of reduced head circumference and brain volume, with fewer neurons in the cortex of the developing brain due to premature transition between symmetrical and asymmetrical cell…
View article: <i>CDC174</i>, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay
<i>CDC174</i>, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay Open
Siblings of non-consanguineous Jewish-Ethiopian ancestry presented with congenital axial hypotonia, weakness of the abducens nerve, psychomotor developmental delay with brain ventriculomegaly, variable thinning of corpus callosum and cardi…