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Publisher : american society for clinical investigation Subject : biochemistry

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A molecular defect in two families with hemolytic poikilocytic anemia: reduction of high affinity membrane binding sites for ankyrin

Authors : Peter Agre; Vann Bennett; David H.K. Chui

Subjects: Adult; Ankyrins; Male

Source: Journal of Clinical Investigation. 68:1566-1576

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Academic Journal

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.

Authors : Egunsola, Adetutu T.¹; Yangjin Bae¹ ; Ming-Ming Jiang¹

Subjects: *DYSPLASIA; *CELLULAR pathology; *UBIQUITINATION

Source: Journal of Clinical Investigation. 4/3/2017, Vol. 127 Issue 4, p1475-1484. 10p. 2 Diagrams, 4 Graphs.

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Ghrelin receptor mutations - too little height and too much hunger.

Authors : Holst, Birgitte¹; Schwartz, Thue W.¹

Subjects: *GHRELIN; *OBESITY; *PUBERTY

Source: Journal of Clinical Investigation. Mar2006, Vol. 116 Issue 3, p637-641. 5p. 2 Graphs.

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New weapons against inflammation: dual inhibitors of phospholipase A2 and transglutaminase

Authors : Lucio Miele

Subjects: Tissue transglutaminase; Biology; Models, Biological

Source: Journal of Clinical Investigation. 111:19-21

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Familial hyperproinsulinemia. Two cohorts secreting indistinguishable type II intermediates of proinsulin conversion

Authors : Steven E. Shoelson; Howard S. Tager; Arthur H. Rubenstein

Subjects: medicine.medical_specialty; Chemical Phenomena; medicine.medical_treatment

Source: Journal of Clinical Investigation. 73:714-719

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Purine Nucleoside Phosphorylase Deficiency

Authors : W. D. Biggar; S H Chen; Eloise R. Giblett

Subjects: Purine nucleoside phosphorylase; General Medicine; Biology

Source: Journal of Clinical Investigation. 60:741-746

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Characterization of the Porphobilinogen Deaminase Deficiency in Acute Intermittent Porphyria

Authors : Karl E. Anderson; Peter M. Anderson; Robert J. Desnick

Subjects: chemistry.chemical_classification; Mutation; Genetic heterogeneity

Source: Journal of Clinical Investigation. 68:1-12

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Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate

Authors : Robert J. Desnick; Pertti Mustajoki; Peter A. Tishler

Subjects: Ammonia-Lyases; Hot Temperature; Porphobilinogen deaminase

Source: Journal of Clinical Investigation. 76:865-874

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Hemoglobin NYU, a delta chain variant, α2δ212Lys

Authors : Bracha Ramot; Alan S. Jacobs; Thomas B. Bradley

Subjects: Blood protein disorder; Hemoglobin A; Biochemistry

Source: Journal of Clinical Investigation. 48:2057-2062

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Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

Authors : Gustav Dallner; Agnès Delahodde; Arnold Munnich

Subjects: Adult; Male; Mitochondrial Diseases

Source: Journal of Clinical Investigation. 117:765-772

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