Abigail Tadenev

Abigail Tadenev
The Jackson Laboratory · Research

PhD

About

21
Publications
4,130
Reads
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344
Citations
Citations since 2016
15 Research Items
304 Citations
2016201720182019202020212022020406080
2016201720182019202020212022020406080
2016201720182019202020212022020406080
2016201720182019202020212022020406080
Additional affiliations
October 2015 - October 2015
The Jackson Laboratory
Position
  • Research Associate

Publications

Publications (21)
Article
NADK2 encodes the mitochondrial form of NAD Kinase, which phosphorylates nicotinamide adenine dinucleotide (NAD). Rare recessive mutations in human NADK2 are associated with a syndromic neurological mitochondrial disease that includes metabolic changes such as hyperlysinemia and 2,4 dienoyl CoA reductase (DECR) deficiency. However, the full pathoph...
Preprint
Full-text available
NADK2 encodes the mitochondrial isoform of NAD Kinase, which phosphorylates nicotinamide adenine dinucleotide (NAD). Rare recessive mutations in human NADK2 are associated with a syndromic neurological mitochondrial disease that includes metabolic changes such as hyperlysinemia and 2,4 dienoyl CoA reductase (DECR) deficiency. However, the full path...
Article
Full-text available
Animal models of neurodegenerative diseases such as inherited peripheral neuropathies sometimes accurately recreate the pathophysiology of the human disease, and sometimes accurately recreate the genetic perturbations found in patients. Ideally, models achieve both, but this is not always possible; nonetheless, such models are informative. Here we...
Article
Full-text available
Defeating peripheral neuropathy The mechanisms underlying peripheral neuropathies are not well understood. Spaulding et al . studied mouse models of the inherited Charcot-Marie-Tooth (CMT) disease, which is caused by mutations in transfer RNA (tRNA) synthetases. Changes in gene expression and the rate of protein synthesis in neurons in the spinal c...
Article
Full-text available
Defeating peripheral neuropathy The mechanisms underlying peripheral neuropathies are not well understood. Spaulding et al . studied mouse models of the inherited Charcot-Marie-Tooth (CMT) disease, which is caused by mutations in transfer RNA (tRNA) synthetases. Changes in gene expression and the rate of protein synthesis in neurons in the spinal c...
Poster
Full-text available
Hereditary autonomic and sensory neuropathy (HSAN1) is caused by dominant mutations in serine palmitoyltransferase long chain 1 or 2 (SPTLC1/2), which charges serine onto palmitoylate as a first step in sphingolipid biosynthesis. Mutations in SPTLC1 alter the enzyme's substrate specificity, creating deoxysphingoid base intermediates (DSBs) that are...
Article
Full-text available
The final step in proline biosynthesis is catalyzed by three pyrroline-5-carboxylate reductases, PYCR1, PYCR2, and PYCR3, which convert pyrroline-5-carboxylate (P5C) to proline. Mutations in human PYCR1 and ALDH18A1 (P5C Synthetase) cause Cutis Laxa (CL), whereas mutations in PYCR2 cause hypomyelinating leukodystrophy 10 (HLD10). Here, we investiga...
Article
Full-text available
It has become increasingly appreciated that autoimmune responses against neuronal components play an important role in type 1 diabetes (T1D) pathogenesis. In fact, a large proportion of islet-infiltrating B lymphocytes in the NOD mouse model of T1D produce Abs directed against the neuronal type III intermediate filament protein peripherin. NOD-PerI...
Article
Full-text available
The promise of personalized medicine is that each patient’s treatment can be optimally tailored to their disease. In turn, their disease, as well as their response to the treatment, is determined by their genetic makeup and the “environment,” which relates to their general health, medical history, personal habits, and surroundings. Developing such...
Article
The transduction compartment of inner ear hair cells, the hair bundle, is composed of stereocilia rows of graded height, a property essential for sensory function that remains poorly understood at the molecular level. We previously showed that GPSM2-GNAI is enriched at stereocilia distal tips and required for their postnatal elongation and bundle m...
Article
Hundreds of thousands of cis-regulatory DNA sequences are predicted in vertebrate genomes, but unlike genes themselves, few have been characterized at the functional level or even unambiguously paired with a target gene. Here we serendipitously identified and started investigating the first reported long-range regulatory region for the Nr2f1 (Coup-...
Chapter
Full-text available
Mitosis is a process requiring strict spatial organization of cellular components. In particular, the orientation of the mitotic spindle with respect to the tissue defines the division plane. In turn, the orientation of cell division can regulate tissue morphology or the fate of daughter cells. While we have learned much about the mechanisms of mit...
Article
Full-text available
Sensory perception in the inner ear relies on the hair bundle, the highly polarized brush of movement detectors crowning hair cells. We previously showed that, in the mouse cochlea, the edge of the forming bundle is defined by the 'bare zone', a microvilli-free sub-region of apical membrane specified by the mInsc-LGN-G?i protein complex. We now rep...
Data
p-values from all pairwise comparisons. p-values were calculated from each pairwise comparison across genotypes using the indicated measurement and test. NN = nearest neighbor analysis; PF = packing factor derived from DRP (density recovery profiling). DOI: http://dx.doi.org/10.7554/eLife.16144.018
Article
Full-text available
Spontaneously arising mouse mutations have served as the foundation for understanding gene function for over 100 years. We have used exome sequencing in an effort to identify the causative mutations for 172 distinct, spontaneously arising mouse models of Mendelian disorders, including a broad range of clinically relevant phenotypes. To analyze the...
Article
Full-text available
Many of the models of neurodevelopmental processes such as cell migration, axon outgrowth, and dendrite arborization involve cell adhesion and chemoattraction as critical physical or mechanical aspects of the mechanism. However, the prevention of adhesion or attraction is under-appreciated as a necessary, active process that balances these forces,...
Article
Previous models of neuronal dendrite arborization suggested that contact-dependent self-avoidance between dendrite branches prevents self-crossings within the arbor. Two papers in Neuron show how integrin-mediated adhesion to the extracellular matrix restricts dendrites to a two-dimensional space to optimize this mechanism (Han et al., 2012; Kim et...
Article
Full-text available
Mutations in the gene encoding the immunoglobulin-superfamily member cell adhesion molecule contactin1 (CNTN1) cause lethal congenital myopathy in human patients and neurodevelopmental phenotypes in knockout mice. Whether the mutant mice provide an accurate model of the human disease is unclear; resolving this will require additional functional tes...
Article
Full-text available
Bardet-Biedl syndrome (BBS) is a pleiotropic, heterogeneous human disease whose etiology lies primarily in dysfunctional basal bodies and/or cilia. Both BBS patients and several BBS mouse models exhibit impaired olfactory function. To explore the nature of olfactory defects in BBS, a genetic ablation of the mouse Bbs8 gene that incorporates a fluor...

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