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Halperin-Birk Syndrome
Halperin-Birk syndrome (HLBKS) is a rare autosomal recessive neurodevelopmental disorder caused by a null mutation in the ''SEC31A'' gene. Signs and symptoms include intrauterine growth retardation, marked developmental delay, spastic quadriplegia with profound contractures, dysmorphism, and optic nerve atrophy with no eye fixation. Brain MRI demonstrated microcephaly and agenesis of the corpus callosum. The syndrome was first described in 2019 by Daniel Halperin and Prof. Ohad Birk at the Morris Kahn Laboratory for Human Genetics, Ben Gurion University of the Negev. Signs and symptoms Inheritance * Autosomal recessive Growth * Intrauterine growth retardation * Failure to thrive Head & neck * Head ** Microcephaly * Face ** Triangular face ** Pointed face ** Micrognathia * Ears ** Hearing impairment * Eyes ** Cataracts, congenital ** Optic atrophy ** Lack of fixation ** Visual impairment ** Long eyelashes * Mouth ** High-arched palate Thick lips Respiratory * Recu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SEC31A
Protein transport protein Sec31A is a protein that in humans is encoded by the ''SEC31A'' gene. The protein encoded by this gene is similar to the SEC31 protein from yeast. The yeast SEC31 protein is known to be a component of the COPII protein complex, which is responsible for vesicle budding from endoplasmic reticulum (ER). This protein was found to colocalize with SEC13, one of the other components of COPII, in the subcellular structures corresponding to the vesicle transport function. An immunodepletion experiment confirmed that this protein is required for ER-Golgi transport. Alternative splicing results in multiple transcript variants encoding different isoforms. Halperin-Birk syndrome Halperin-Birk syndrome (HLBKS) is a rare autosomal recessive neurodevelopmental disorder caused by a null mutation in the ''SEC31A'' gene. Signs and symptoms include intrauterine growth retardation, marked developmental delay, spastic quadriplegi ... (HLBKS), a rare autosomal recessive neu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
COPII
The Coat Protein Complex II, or COPII, is a group of proteins that facilitate the formation of vesicles to transport proteins from the endoplasmic reticulum to the Golgi apparatus or endoplasmic-reticulum–Golgi intermediate compartment. This process is termed anterograde transport, in contrast to the retrograde transport associated with the COPI complex. COPII is assembled in two parts: first an inner layer of Sar1, Sec23, and Sec24 forms; then the inner coat is surrounded by an outer lattice of Sec13 and Sec31. Function The COPII coat is responsible for the formation of vesicles from the endoplasmic reticulum (ER). These vesicles transport cargo proteins to the Golgi apparatus (in yeast) or the endoplasmic-reticulum-Golgi intermediate compartment (ERGIC, in mammals). Coat assembly is initiated when the cytosolic Ras GTPase Sar1 is activated by its guanine nucleotide exchange factor Sec12. Activated Sar1-GTP inserts itself into the ER membrane, binding preferentially to are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Guanosine Diphosphate
Guanosine diphosphate, abbreviated GDP, is a nucleoside diphosphate. It is an ester of pyrophosphoric acid with the nucleoside guanosine. GDP consists of a pyrophosphate group, a pentose sugar ribose, and the nucleobase guanine. GDP is the product of GTP dephosphorylation by GTPases, e.g., the G-proteins that are involved in signal transduction. GDP is converted into GTP with the help of pyruvate kinase and phosphoenolpyruvate. See also * DNA *Guanosine triphosphate *Nucleoside *Nucleotide *Oligonucleotide *RNA Ribonucleic acid (RNA) is a polymeric molecule essential in various biological roles in coding, decoding, regulation and expression of genes. RNA and deoxyribonucleic acid ( DNA) are nucleic acids. Along with lipids, proteins, and carbohydra ... References {{DEFAULTSORT:Guanosine phosphate2 Nucleotides Phosphate esters Purines Pyrophosphates ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SAR1
The Coat Protein Complex II, or COPII, is a group of proteins that facilitate the formation of vesicles to transport proteins from the endoplasmic reticulum to the Golgi apparatus or endoplasmic-reticulum–Golgi intermediate compartment. This process is termed anterograde transport, in contrast to the retrograde transport associated with the COPI complex. COPII is assembled in two parts: first an inner layer of Sar1, Sec23, and Sec24 forms; then the inner coat is surrounded by an outer lattice of Sec13 and Sec31. Function The COPII coat is responsible for the formation of vesicles from the endoplasmic reticulum (ER). These vesicles transport cargo proteins to the Golgi apparatus (in yeast) or the endoplasmic-reticulum-Golgi intermediate compartment (ERGIC, in mammals). Coat assembly is initiated when the cytosolic Ras GTPase Sar1 is activated by its guanine nucleotide exchange factor Sec12. Activated Sar1-GTP inserts itself into the ER membrane, binding preferentially to areas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GTPase
GTPases are a large family of hydrolase enzymes that bind to the nucleotide guanosine triphosphate (GTP) and hydrolyze it to guanosine diphosphate (GDP). The GTP binding and hydrolysis takes place in the highly conserved P-loop "G domain", a protein domain common to many GTPases. Functions GTPases function as molecular switches or timers in many fundamental cellular processes. Examples of these roles include: * Signal transduction in response to activation of cell surface receptors, including transmembrane receptors such as those mediating taste, smell and vision. * Protein biosynthesis (a.k.a. translation) at the ribosome. * Regulation of cell differentiation, proliferation, division and movement. * Translocation of proteins through membranes. * Transport of vesicles within the cell, and vesicle-mediated secretion and uptake, through GTPase control of vesicle coat assembly. GTPases are active when bound to GTP and inactive when bound to GDP. In the generalized recepto ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Procollagen
Collagen () is the main structural protein in the extracellular matrix found in the body's various connective tissues. As the main component of connective tissue, it is the most abundant protein in mammals, making up from 25% to 35% of the whole-body protein content. Collagen consists of amino acids bound together to form a triple helix of elongated fibril known as a collagen helix. It is mostly found in connective tissue such as cartilage, bones, tendons, ligaments, and skin. Depending upon the degree of mineralization, collagen tissues may be rigid (bone) or compliant (tendon) or have a gradient from rigid to compliant (cartilage). Collagen is also abundant in corneas, blood vessels, the gut, intervertebral discs, and the dentin in teeth. In muscle tissue, it serves as a major component of the endomysium. Collagen constitutes one to two percent of muscle tissue and accounts for 6% of the weight of the skeletal muscle tissue. The fibroblast is the most common cell that creates ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Embryogenesis
An embryo is an initial stage of development of a multicellular organism. In organisms that reproduce sexually, embryonic development is the part of the life cycle that begins just after fertilization of the female egg cell by the male sperm cell. The resulting fusion of these two cells produces a single-celled zygote that undergoes many cell divisions that produce cells known as blastomeres. The blastomeres are arranged as a solid ball that when reaching a certain size, called a morula, takes in fluid to create a cavity called a blastocoel. The structure is then termed a blastula, or a blastocyst in mammals. The mammalian blastocyst hatches before implantating into the endometrial lining of the womb. Once implanted the embryo will continue its development through the next stages of gastrulation, neurulation, and organogenesis. Gastrulation is the formation of the three germ layers that will form all of the different parts of the body. Neurulation forms the nervous sys ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cleithrum
The cleithrum (plural cleithra) is a membrane bone which first appears as part of the skeleton in primitive bony fish, where it runs vertically along the scapula. Its name is derived from Greek κλειθρον = " key (lock)", by analogy with "clavicle" from Latin ''clavicula'' = "little key". In modern fishes, the cleithrum is a large bone that extends upwards from the base of the pectoral fin and anchors to the cranium above the gills, forming the posterior edge of the gill chamber. The bone has scientific use as a means to determine the age of fishes. The lobe-finned fishes share this arrangement. In the earliest amphibians however, the cleithrum/clavicle complex came free of the skull roof, allowing for a movable neck. The cleithrum disappeared early in the evolution of reptiles, and in amniotes is very small or absent. It has been argued based on position, muscle connectivity, and developmental origin that the nuchal element of the turtle carapace A carapace is a Dors ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Otic Vesicle
Otic vesicle, or auditory vesicle, consists of either of the two sac-like invaginations formed and subsequently closed off during embryonic development. It is part of the neural ectoderm, which will develop into the membranous labyrinth of the inner ear. This labyrinth is a continuous epithelium, giving rise to the vestibular system and auditory components of the inner ear. During the earlier stages of embryogenesis, the otic placode invaginates to produce the otic cup. Thereafter, the otic cup closes off, creating the otic vesicle. Once formed, the otic vesicle will reside next to the neural tube medially, and on the lateral side will be paraxial mesoderm. Neural crest cells will migrate rostral and caudal to the placode. The general sequence in formation of the otic vesicle is relatively conserved across vertebrates, although there is much variation in timing and stages. Patterning during morphogenesis into the distinctive inner ear structures is determined by homeobox trans ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Superior Colliculus
In neuroanatomy, the superior colliculus () is a structure lying on the roof of the mammalian midbrain. In non-mammalian vertebrates, the homologous structure is known as the optic tectum, or optic lobe. The adjective form ''tectal'' is commonly used for both structures. In mammals, the superior colliculus forms a major component of the midbrain. It is a paired structure and together with the paired inferior colliculi forms the corpora quadrigemina. The superior colliculus is a layered structure, with a pattern that is similar to all mammals. The layers can be grouped into the superficial layers ( stratum opticum and above) and the deeper remaining layers. Neurons in the superficial layers receive direct input from the retina and respond almost exclusively to visual stimuli. Many neurons in the deeper layers also respond to other modalities, and some respond to stimuli in multiple modalities. The deeper layers also contain a population of motor-related neurons, capable of activat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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