We are analyzing https://link.springer.com/article/10.1007/s10048-006-0061-1.

Title:
Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus | Neurogenetics
Description:
Two families are presented with a child suffering from microcephaly with a simplified gyral pattern of the brain (SGP) and early onset insulin dependent diabetes mellitus (IDDM). The first patient was diagnosed postmortally with Wolcott–Rallison syndrome, after her younger brother developed IDDM, and a homozygous mutation in the eukaryotic translation initiation factor 2-alpha kinase 3 was found. The younger brother did not undergo magnetic resonance imaging (MRI). The patient from the second family has no EIF2AK3 mutation. SGP is considered to arise from decreased neuronal proliferation or increased apoptosis at an early stage of embryonal development, but insight into the pathways involved is minimal. EIF2AK3 is involved in translation initiation. It has been proposed that loss of function mutations reduce the ability of the cell to respond to endoplasmic reticulum stress, resulting in apoptosis of pancreatic Langerhans cells. Our findings suggest that in some cases, early onset IDDM and SGP can arise from common mechanisms leading to increased apoptosis.
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Topics {✒️}

month download article/chapter pancreatic langerhans cells eif2b-related disease wolcott–rallison syndrome caused beta cell failure early onset iddm simplified gyral pattern diabetes mellitus article neurogenetics aims full article pdf abnormal glucose homeostasis translation initiation wolcott–rallison syndrome wolcott-rallison syndrome cortical development privacy choices/manage cookies erasmus medical center related subjects van de laar van de laar unfolded protein response de vreugt-gronloh european economic area scope submit manuscript decreased neuronal proliferation endoplasmic reticulum stress common mechanisms leading animo acid deficiency mammalian piriform cortex vanishing white matter check access instant access conditions privacy policy eif2ak3 gene ross-inta cm neonatal diabetes insulin resistance accepting optional cookies article log embryonal development author information authors al-gazali li journal finder publish article cite early stage kinase activity alpha subunit protein synthesis severe inhibition diabetes 51

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         headline:Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus
         description:Two families are presented with a child suffering from microcephaly with a simplified gyral pattern of the brain (SGP) and early onset insulin dependent diabetes mellitus (IDDM). The first patient was diagnosed postmortally with Wolcott–Rallison syndrome, after her younger brother developed IDDM, and a homozygous mutation in the eukaryotic translation initiation factor 2-alpha kinase 3 was found. The younger brother did not undergo magnetic resonance imaging (MRI). The patient from the second family has no EIF2AK3 mutation. SGP is considered to arise from decreased neuronal proliferation or increased apoptosis at an early stage of embryonal development, but insight into the pathways involved is minimal. EIF2AK3 is involved in translation initiation. It has been proposed that loss of function mutations reduce the ability of the cell to respond to endoplasmic reticulum stress, resulting in apoptosis of pancreatic Langerhans cells. Our findings suggest that in some cases, early onset IDDM and SGP can arise from common mechanisms leading to increased apoptosis.
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            Insulin dependent diabetes mellitus
            Malformation of cortical development
            Simplified gyral pattern
            Wolcott–Rallison syndrome
            Neurology
            Neurosciences
            Human Genetics
            Molecular Medicine
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      headline:Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus
      description:Two families are presented with a child suffering from microcephaly with a simplified gyral pattern of the brain (SGP) and early onset insulin dependent diabetes mellitus (IDDM). The first patient was diagnosed postmortally with Wolcott–Rallison syndrome, after her younger brother developed IDDM, and a homozygous mutation in the eukaryotic translation initiation factor 2-alpha kinase 3 was found. The younger brother did not undergo magnetic resonance imaging (MRI). The patient from the second family has no EIF2AK3 mutation. SGP is considered to arise from decreased neuronal proliferation or increased apoptosis at an early stage of embryonal development, but insight into the pathways involved is minimal. EIF2AK3 is involved in translation initiation. It has been proposed that loss of function mutations reduce the ability of the cell to respond to endoplasmic reticulum stress, resulting in apoptosis of pancreatic Langerhans cells. Our findings suggest that in some cases, early onset IDDM and SGP can arise from common mechanisms leading to increased apoptosis.
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         Simplified gyral pattern
         Wolcott–Rallison syndrome
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         Human Genetics
         Molecular Medicine
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