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A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism
The importance of the endocytic/lysosomal pathway in the pathogenesis of Parkinson disease and other forms of Parkinsonism is underscored, with a deleterious mutation in DNAJC6 identified in two patients with juvenile Parkinsonism. Expand
The origin and fate of pioneer myotomal cells in the avian embryo
It is proposed that the primary myotome formed by the muscle pioneers constitutes a longitudinal scaffold that serves as a substrate for the addition of subsequent waves of myotomal cells. Expand
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin
Interestingly, dystonin is significantly more abundant in cells of familial dysautonomia patients with IKBKAP (I‐κ‐B kinase complex‐associated protein) mutation compared to fibroblasts of controls, suggesting that upregulation of dySTONin is responsible for the milder course in familial dysAutonomia. Expand
Identification of the Long-Sought Leptin in Chicken and Duck: Expression Pattern of the Highly GC-Rich Avian leptin Fits an Autocrine/Paracrine Rather Than Endocrine Function.
The results point to an autocrine/paracrine mode of action for bird leptin instead of being a circulating hormone as in mammals, resolving a long lasting controversy regarding the existence of leptin genes in these species. Expand
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia
- V. Boczonadi, Juliane S. Müller, +24 authors R. Horvath
- Biology, Medicine
- Nature communications
- 3 July 2014
It is shown that homozygous missense mutations in EXOSC8 cause progressive and lethal neurological disease in 22 infants from three independent pedigrees, showing the central role of the exosomal pathway in neurodegenerative disease. Expand
The cellular mechanism by which the dermomyotome contributes to the second wave of myotome development.
Cell addition occurs from both rostral and caudal edges of the dermomyotome, but not directly from its dorsomedial lip (DML), and the data suggest that myotome formation is a multistage process. Expand
Differential effects of N-cadherin-mediated adhesion on the development of myotomal waves
It is shown for the first time that the asymmetric localization of N-cadherin during mitosis indirectly influences fate segregation by differentially driving the allocation of progenitors to muscle versus dermal primordia, and that the adhesive domain of EMT maintains the integrity of the dermomyotome epithelium, which is necessary for myogenic specification. Expand
The third wave of myotome colonization by mitotically competent progenitors: regulating the balance between differentiation and proliferation during muscle development.
A third wave of progenitors that enter the myotome as mitotically active cells from both rostral and caudal dermomyotome edges are revealed, consistent with a heterogeneity in the cellular composition of the extreme lips, MyoD is normally expressed in only a subset of these epithelial cells. Expand
Characterization of the early development of specific hypaxial muscles from the ventrolateral myotome.
The development and precise fate of the ventrolateral lip (VLL) in non-limb regions of the axis is addressed and it is shown that during myotome growth and evolution into muscle, second-wave myofibers progressively intercalate between the pioneer fibers, suggesting a constant mode of myotomal expansion in its dorsomedial toventrolateral extent. Expand
Inhibition of Notch2 by Numb/Numblike controls myocardial compaction in the heart.
- Jiwen Yang, Sandra Bücker, +9 authors T. Braun
- Chemistry, Medicine
- Cardiovascular research
- 1 November 2012
It is unveiled that concomitant but not separate ablation of Numb and Numblike in the developing heart leads to increased Notch2 activity along with hypertrabeculation, reduced compaction, and ventricular septum defects, phenocopying effects gained by overexpression of constitutively active Notch 2. Expand