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A rescue factor abolishing neuronal cell death by a wide spectrum of familial Alzheimer's disease genes and Aβ
Through functional expression screening, we identified a gene, designated Humanin (HN) cDNA, which encodes a short polypeptide and abolishes death of neuronal cells caused by multiple different typesExpand
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Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.
BACKGROUND The genetic cause of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), which is characterized by ischemic, nonhypertensive, cerebralExpand
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A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease.
To search for a genetic marker for type 2 Gaucher's disease (acute neuronopathic form), we compared the nucleotide sequence of a cloned glucocerebrosidase gene from a patient with Gaucher's diseaseExpand
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Intranuclear Degradation of Polyglutamine Aggregates by the Ubiquitin-Proteasome System*
Huntington disease and its related autosomal-dominant polyglutamine (pQ) neurodegenerative diseases are characterized by intraneuronal accumulation of protein aggregates. Studies on proteinExpand
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An immunologic abnormality common to Bickerstaff's brain stem encephalitis and Fisher's syndrome
The nosological position of Bickerstaff's brain stem encephalitis (BBE) has yet to be established, and its etiology is not clear. Because anti-GQ1b antibody frequently occurs in patients withExpand
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Mutations in COQ2 in familial and sporadic multiple-system atrophy.
BACKGROUND Multiple-system atrophy is an intractable neurodegenerative disease characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidalExpand
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Evolutionary relationships of lactate dehydrogenases (LDHs) from mammals, birds, an amphibian, fish, barley, and bacteria: LDH cDNA sequences from Xenopus, pig, and rat.
The nucleotide sequences of the cDNAs encoding LDH (EC 1.1.1.27) subunits LDH-A (muscle), LDH-B (liver), and LDH-C (oocyte) from Xenopus laevis, LDH-A (muscle) and LDH-B (heart) from pig, and LDH-BExpand
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Changes of growth inhibitory factor after stab wounds in rat brain
The growth inhibitory factor (GIF) is a new metallothionein (MT)-like protein that is downregulated in Alzheimer's disease (AD) brain. The biological function of GIF has not been fully clarified yet.Expand
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Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12
We report here the genetic basis for a form of progressive hereditary spastic paraplegia (SPG43) previously described in two Malian sisters. Exome sequencing revealed a homozygous missense variantExpand
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SNP HiTLink: a high-throughput linkage analysis system employing dense SNP data
TLDR
We have developed SNP HiTLink (SNPHi gh T hroughput Link age analysis system). Expand
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