Reduced purine biosynthesis in humans after their divergence from Neandertals

Reintroduction of the archaic variant of NOVA1 in cortical organoids alters neurodevelopment

(2021) Cleber A. Trujillo et al.   SCIENCE

Simultaneous precise editing of multiple genes in human cells

(2019) Stephan Riesenberg et al.   NUCLEIC ACIDS RESEARCH

Organoid single-cell genomic atlas uncovers human-specific features of brain development

(2019) Sabina Kanton et al.   NATURE

Evolutionary Changes in Transcriptional Regulation: Insights into Human Behavior and Neurological Conditions

(2018) Ryan N. Doan et al.   Annual Review of Neuroscience

Evolution and cell-type specificity of human-specific genes preferentially expressed in progenitors of fetal neocortex

(2018) Marta Florio et al.   eLife

Molecular comparison of Neanderthal and Modern Human adenylosuccinate lyase

(2018) Bart Van Laer et al.   Scientific Reports

Pathophysiological Role of Purines and Pyrimidines in Neurodevelopment: Unveiling New Pharmacological Approaches to Congenital Brain Diseases

(2017) Marta Fumagalli et al.   Frontiers in Pharmacology

2D and 3D Stem Cell Models of Primate Cortical Development Identify Species-Specific Differences in Progenitor Behavior Contributing to Brain Size

(2016) Tomoki Otani et al.   Cell Stem Cell

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility

(2016) Xander Nuttle et al.   NATURE

Differences and similarities between human and chimpanzee neural progenitors during cerebral cortex development

(2016) Felipe Mora-Bermúdez et al.   eLife

Testing for Ancient Selection Using Cross-population Allele Frequency Differentiation

(2015) F. Racimo   GENETICS

The Human Condition—A Molecular Approach

(2014) Svante Pääbo   CELL

Adenylosuccinate lyase deficiency

(2014) Agnieszka Jurecka et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The genomic landscape of Neanderthal ancestry in present-day humans

(2014) Sriram Sankararaman et al.   NATURE

Patterns of coding variation in the complete exomes of three Neandertals

(2014) S. Castellano et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations

(2013) Stephen P. Ray et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Differential L1 regulation in pluripotent stem cells of humans and apes

(2013) Maria C. N. Marchetto et al.   NATURE

The complete genome sequence of a Neanderthal from the Altai Mountains

(2013) Kay Prüfer et al.   NATURE

Structural and Biochemical Characterization of Human Adenylosuccinate Lyase (ADSL) and the R303C ADSL Deficiency-Associated Mutation

(2012) Stephen P. Ray et al.   BIOCHEMISTRY

Inhibition of SRGAP2 Function by Its Human-Specific Paralogs Induces Neoteny during Spine Maturation

(2012) Cécile Charrier et al.   CELL

Generation times in wild chimpanzees and gorillas suggest earlier divergence times in great ape and human evolution

(2012) K. E. Langergraber et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neurological Disorders of Purine and Pyrimidine Metabolism

(2011) Vanna Micheli et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature

(2011) Agnieszka Jurecka et al.   EUROPEAN JOURNAL OF PEDIATRICS

Non-targeted metabolite profiling in activated macrophage secretion

(2011) Masahiro Sugimoto et al.   Metabolomics

Elemental formula annotation of polar and lipophilic metabolites using13C,15N and34S isotope labelling, in combination with high-resolution mass spectrometry

(2011) Patrick Giavalisco et al.   PLANT JOURNAL

Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency

(2010) Marie Zikanova et al.   HUMAN MUTATION

Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency

(2010) Lydia K. Vliet et al.   MOLECULAR GENETICS AND METABOLISM

A Draft Sequence of the Neandertal Genome

(2010) R. E. Green et al.   SCIENCE

Biochemical and Biophysical Analysis of Five Disease-Associated Human Adenylosuccinate Lyase Mutants

(2009) Lushanti De Zoysa Ariyananda et al.   BIOCHEMISTRY

TargetSearch - a Bioconductor package for the efficient preprocessing of GC-MS metabolite profiling data

(2009) Álvaro Cuadros-Inostroza et al.   BMC BIOINFORMATICS

Epistasis — the essential role of gene interactions in the structure and evolution of genetic systems

(2008) Patrick C. Phillips   NATURE REVIEWS GENETICS